- Mar 2021
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Source Data
AssayResult: 10.4
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardDeviation: 3.22
StandardErrorMean: 2.28
Comment: Exact values reported in “Source Data” file.
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Source Data
AssayResult: 7.75
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardDeviation: 2.59
StandardErrorMean: 1.83
Comment: Exact values reported in “Source Data” file.
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Source Data
AssayResult: 75.45
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 4.03
StandardErrorMean: 2.85
Comment: Exact values reported in “Source Data” file.
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Source Data
AssayResult: 98.55
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 5.74
StandardErrorMean: 4.06
Comment: Exact values reported in “Source Data” file.
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Source Data
AssayResult: 62.31
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 11.49
StandardErrorMean: 8.13
Comment: Exact values reported in “Source Data” file.
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Source Data
AssayResult: 66.19
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 21.26
StandardErrorMean: 15.03
Comment: Exact values reported in “Source Data” file.
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Source Data
AssayResult: 105.41
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 9.45
StandardErrorMean: 6.68
Comment: Exact values reported in “Source Data” file.
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Source Data
AssayResult: 7.82
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardDeviation: 2.31
StandardErrorMean: 1.64
Comment: Exact values reported in “Source Data” file.
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Source Data
AssayResult: 92.32
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 2.26
StandardErrorMean: 1.6
Comment: Exact values reported in “Source Data” file.
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Source Data
AssayResult: 44.9
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 9.75
StandardErrorMean: 6.89
Comment: Exact values reported in “Source Data” file.
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Source Data
AssayResult: 97.61
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 0.97
StandardErrorMean: 0.68
Comment: Exact values reported in “Source Data” file.
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Source Data
AssayResult: 11.28
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardDeviation: 1.24
StandardErrorMean: 0.87
Comment: Exact values reported in “Source Data” file.
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Source Data
AssayResult: 86.67
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 2.24
StandardErrorMean: 1.58
Comment: Exact values reported in “Source Data” file.
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We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.1010T>C p.(L337S)
Tags
- ValidationControl:Pathogenic
- Variant:9
- CG:BulkAnnotation
- Variant:10
- Variant:4
- ClinVarID:126607
- Variant:13
- ClinVarID:182790
- ClinVarID:126600
- ClinVarID:142468
- Variant:12
- Variant:6
- CGType:Variant
- CAID:CA288398
- CAID:CA269492
- ClinVarID:126582
- ClinVarID:546043
- ClinVarID:1243
- CAID:CA288386
- CAID:CA251717
- CAID:CA16621924
- CAID:CA279502031
- Variant:3
- Variant:5
- CAID:CA151222
- FuncAssay:1
- ClinVarID:126595
- Variant:8
- CAID:CA250432
- ClinVarID:657328
- ValidationControl:Benign
- Variant:1
- CAID:CA163908
- CGType:FunctionalAssayResult
- ClinVarID:126590
- ClinVarID:126609
- CAID:CA151212
- CAID:CA395139401
- CAID:CA185966
- Variant:7
- CAID:CA294407
- Variant:11
- Variant:2
- ClinVarID:126594
Annotators
URL
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www.cell.com www.cell.com
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 59.3
AssayResultAssertion: Indeterminate
ReplicateCount: 30
StandardErrorMean: 8.3
Comment: This variant had mild loss of function (peak current >50% and <75% of wildtype), therefore it was considered inconclusive and neither abnormal nor normal in vitro function. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 28.4
AssayResultAssertion: Abnormal
ReplicateCount: 13
StandardErrorMean: 8.6
Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 45.3
AssayResultAssertion: Abnormal
ReplicateCount: 31
StandardErrorMean: 5.1
Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1).
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 37.2
AssayResultAssertion: Abnormal
ReplicateCount: 26
StandardErrorMean: 3.8
Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 23.1
AssayResultAssertion: Abnormal
ReplicateCount: 33
StandardErrorMean: 3.2
Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 89.5
AssayResultAssertion: Normal
ReplicateCount: 29
StandardErrorMean: 14.6
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 0.9
AssayResultAssertion: Abnormal
ReplicateCount: 18
StandardErrorMean: 0.5
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 5.4
AssayResultAssertion: Abnormal
ReplicateCount: 19
StandardErrorMean: 1.5
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 14.8
AssayResultAssertion: Abnormal
ReplicateCount: 27
StandardErrorMean: 2.5
Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 78.9
AssayResultAssertion: Normal
ReplicateCount: 38
StandardErrorMean: 7.2
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 43.3
AssayResultAssertion: Abnormal
ReplicateCount: 14
StandardErrorMean: 12.2
Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 59.7
AssayResultAssertion: Indeterminate
ReplicateCount: 41
StandardErrorMean: 6.3
Comment: This variant had mild loss of function (peak current >50% and <75% of wildtype), therefore it was considered inconclusive and neither abnormal nor normal in vitro function. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 10.2
AssayResultAssertion: Abnormal
ReplicateCount: 12
StandardErrorMean: 3.4
Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 0.3
AssayResultAssertion: Abnormal
ReplicateCount: 24
StandardErrorMean: 0.3
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 0
AssayResultAssertion: Abnormal
ReplicateCount: 11
StandardErrorMean: 0
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 3
AssayResultAssertion: Abnormal
ReplicateCount: 16
StandardErrorMean: 1.5
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 32.6
AssayResultAssertion: Abnormal
ReplicateCount: 10
StandardErrorMean: 6.2
Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 36
AssayResultAssertion: Abnormal
ReplicateCount: 14
StandardErrorMean: 6
Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 13.9
AssayResultAssertion: Abnormal
ReplicateCount: 15
StandardErrorMean: 2.8
Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 3.5
AssayResultAssertion: Abnormal
ReplicateCount: 29
StandardErrorMean: 0.8
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 0.2
AssayResultAssertion: Abnormal
ReplicateCount: 25
StandardErrorMean: 0.2
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 102.6
AssayResultAssertion: Normal
ReplicateCount: 31
StandardErrorMean: 16.5
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 1.6
AssayResultAssertion: Abnormal
ReplicateCount: 15
StandardErrorMean: 0.7
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 12
AssayResultAssertion: Abnormal
ReplicateCount: 10
StandardErrorMean: 2.2
Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 102.4
AssayResultAssertion: Normal
ReplicateCount: 39
StandardErrorMean: 15.5
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 47
AssayResultAssertion: Indeterminate
ReplicateCount: 10
StandardErrorMean: 15.5
Comment: This variant had a mix of multiple abnormalities: a partial loss of function of peak current (10-50% of wildtype) and a gain of function >10mV shift in activation voltage. Therefore it was considered to have inconclusive in vitro properties (neither normal nor abnormal in vitro function). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 114.7
AssayResultAssertion: Normal
ReplicateCount: 42
StandardErrorMean: 15.2
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 36
AssayResultAssertion: Abnormal
ReplicateCount: 19
StandardErrorMean: 5.9
Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 121.4
AssayResultAssertion: Normal
ReplicateCount: 34
StandardErrorMean: 13.2
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 1.1
AssayResultAssertion: Abnormal
ReplicateCount: 27
StandardErrorMean: 0.8
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 29.8
AssayResultAssertion: Abnormal
ReplicateCount: 13
StandardErrorMean: 5.7
Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 3.2
AssayResultAssertion: Abnormal
ReplicateCount: 16
StandardErrorMean: 0.5
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 0.8
AssayResultAssertion: Abnormal
ReplicateCount: 23
StandardErrorMean: 0.6
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 0
AssayResultAssertion: Abnormal
ReplicateCount: 43
StandardErrorMean: 0
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 16
AssayResultAssertion: Abnormal
ReplicateCount: 26
StandardErrorMean: 2.3
Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 2.9
AssayResultAssertion: Abnormal
ReplicateCount: 20
StandardErrorMean: 2.1
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 117.2
AssayResultAssertion: Abnormal
ReplicateCount: 36
StandardErrorMean: 11.7
Comment: This variant had normal peak current and increased late current (>1% of peak), therefore it was considered a GOF variant (in vitro features consistent with Long QT Syndrome Type 3). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 21
AssayResultAssertion: Abnormal
ReplicateCount: 12
StandardErrorMean: 5.1
Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 38.9
AssayResultAssertion: Abnormal
ReplicateCount: 27
StandardErrorMean: 7.2
Comment: This variant had partial loss of function of peak current (10-50% of wildtype) and a >10mV loss of function shift in Vhalf activation, therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 120.5
AssayResultAssertion: Normal
ReplicateCount: 41
StandardErrorMean: 10.5
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 105.3
AssayResultAssertion: Normal
ReplicateCount: 41
StandardErrorMean: 10.8
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 77.5
AssayResultAssertion: Normal
ReplicateCount: 30
StandardErrorMean: 8.6
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 41.7
AssayResultAssertion: Abnormal
ReplicateCount: 15
StandardErrorMean: 10.8
Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 63.8
AssayResultAssertion: Indeterminate
ReplicateCount: 25
StandardErrorMean: 10.1
Comment: This variant had mild loss of function (peak current >50% and <75% of wildtype), therefore it was considered inconclusive and neither abnormal nor normal in vitro function. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 0.9
AssayResultAssertion: Abnormal
ReplicateCount: 12
StandardErrorMean: 0.6
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 68.1
AssayResultAssertion: Indeterminate
ReplicateCount: 18
StandardErrorMean: 8.7
Comment: This variant had mild loss of function (peak current >50% and <75% of wildtype), therefore it was considered inconclusive and neither abnormal nor normal in vitro function. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 32
AssayResultAssertion: Abnormal
ReplicateCount: 31
StandardErrorMean: 5
Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 1.2
AssayResultAssertion: Abnormal
ReplicateCount: 11
StandardErrorMean: 0.7
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 3.4
AssayResultAssertion: Abnormal
ReplicateCount: 22
StandardErrorMean: 0.8
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 0
AssayResultAssertion: Abnormal
ReplicateCount: 39
StandardErrorMean: 0
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 0.6
AssayResultAssertion: Abnormal
ReplicateCount: 25
StandardErrorMean: 0.4
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 28.5
AssayResultAssertion: Abnormal
ReplicateCount: 21
StandardErrorMean: 7.6
Comment: This variant had partial loss of function of peak current (10-50% of wildtype) and a >10mV loss of function shift in Vhalf activation, therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 113.2
AssayResultAssertion: Normal
ReplicateCount: 30
StandardErrorMean: 13.9
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 0
AssayResultAssertion: Abnormal
ReplicateCount: 24
StandardErrorMean: 0
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 1.3
AssayResultAssertion: Abnormal
ReplicateCount: 67
StandardErrorMean: 0.3
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 0.8
AssayResultAssertion: Abnormal
ReplicateCount: 14
StandardErrorMean: 0.6
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 34.2
AssayResultAssertion: Abnormal
ReplicateCount: 14
StandardErrorMean: 6.7
Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 109.6
AssayResultAssertion: Normal
ReplicateCount: 11
StandardErrorMean: 19.8
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 117.8
AssayResultAssertion: Normal
ReplicateCount: 15
StandardErrorMean: 14.5
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 39
AssayResultAssertion: Abnormal
ReplicateCount: 16
StandardErrorMean: 6.4
Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 119.6
AssayResultAssertion: Normal
ReplicateCount: 22
StandardErrorMean: 19.5
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 0.2
AssayResultAssertion: Abnormal
ReplicateCount: 15
StandardErrorMean: 0.2
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 32.8
AssayResultAssertion: Abnormal
ReplicateCount: 16
StandardErrorMean: 5
Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 89.4
AssayResultAssertion: Normal
ReplicateCount: 26
StandardErrorMean: 12.7
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
-
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 85.1
AssayResultAssertion: Normal
ReplicateCount: 35
StandardErrorMean: 10.6
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
-
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 103.2
AssayResultAssertion: Normal
ReplicateCount: 33
StandardErrorMean: 12.7
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
-
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 120.5
AssayResultAssertion: Normal
ReplicateCount: 33
StandardErrorMean: 13.6
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
-
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 94.8
AssayResultAssertion: Normal
ReplicateCount: 33
StandardErrorMean: 12.6
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
-
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 109.1
AssayResultAssertion: Normal
ReplicateCount: 26
StandardErrorMean: 14.8
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
-
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 101
AssayResultAssertion: Normal
ReplicateCount: 41
StandardErrorMean: 8.9
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
-
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 104.3
AssayResultAssertion: Normal
ReplicateCount: 30
StandardErrorMean: 16.3
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
-
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 105.8
AssayResultAssertion: Normal
ReplicateCount: 36
StandardErrorMean: 12.7
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
-
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 103.2
AssayResultAssertion: Normal
ReplicateCount: 37
StandardErrorMean: 21.8
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
-
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 51.9
AssayResultAssertion: Indeterminate
ReplicateCount: 12
StandardErrorMean: 18.8
Comment: This variant had a mild loss of function in peak current (50-75% of wildtype). It had unmeasured late current, but has been previously reported to have high late current (GOF feature). Therefore it was considered to meet neither the abnormal or normal functional parameter. (Personal communication: A. Glazer)
-
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 64.8
AssayResultAssertion: Abnormal
ReplicateCount: 31
StandardErrorMean: 11.1
Comment: This variant had a mild loss of function in peak current (50-75% of wildtype). It also had a very large increase in recovery from inactivation (>10-fold slower). Therefore it was considered to have a partial loss of function (in vitro function consistent with Brugada Syndrome). (Personal communication: A. Glazer)
-
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 2.2
AssayResultAssertion: Abnormal
ReplicateCount: 16
StandardErrorMean: 1
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1. (Personal communication: A. Glazer)
-
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 114.3
AssayResultAssertion: Abnormal
ReplicateCount: 16
StandardErrorMean: 22.4
Comment: This variant had normal peak current and increased late current (>1% of peak), therefore it was considered a GOF variant (in vitro features consistent with Long QT Syndrome Type 3). (Personal communication: A. Glazer)
-
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 23.2
AssayResultAssertion: Abnormal
ReplicateCount: 14
StandardErrorMean: 7.1
Comment: This variant had partial loss of function of peak current (10-50% of wildtype) and a >10mV loss of function shift in Vhalf activation, therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
-
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 113
AssayResultAssertion: Normal
ReplicateCount: 17
StandardErrorMean: 28.6
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
-
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 0.1
AssayResultAssertion: Abnormal
ReplicateCount: 19
StandardErrorMean: 0.1
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1. (Personal communication: A. Glazer)
-
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 86.7
AssayResultAssertion: Normal
ReplicateCount: 28
StandardErrorMean: 8.6
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
-
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 0.7
AssayResultAssertion: Abnormal
ReplicateCount: 17
StandardErrorMean: 0.6
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
-
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 115.6
AssayResultAssertion: Normal
ReplicateCount: 19
StandardErrorMean: 24.7
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.1003T>C p.(Cys335Arg)
Tags
- ClinVarID:67867
- Variant:9
- CAID:CA014336
- CAID:CA059817
- Variant:10
- Variant:43
- ClinVarID:67857
- CAID:CA017557
- ClinVarID:68047
- CAID:CA017946
- ClinVarID:67727
- CAID:CA018848
- CAID:CA014429
- CAID:CA058963
- Variant:78
- Variant:15
- Variant:32
- Variant:73
- CGType:Variant
- ClinVarID:67633
- CAID:CA018904
- Variant:55
- ClinVarID:67631
- Variant:27
- ClinVarID:67852
- CAID:CA352144555
- CAID:CA018163
- ClinVarID:201546
- Variant:53
- Variant:18
- Variant:71
- ClinVarID:68031
- Variant:8
- CAID:CA018863
- ClinVarID:67732
- ClinVarID:67854
- Variant:1
- Variant:64
- Variant:57
- ClinVarID:67884
- CAID:CA016206
- Variant:75
- CAID:CA019709
- CAID:CA352141945
- CAID:CA064645
- CAID:CA018812
- ClinVarID:67920
- ClinVarID:67721
- Variant:50
- ClinVarID:67939
- ClinVarID:67866
- CAID:CA018503
- CAID:CA352145324
- CAID:CA016274
- CAID:CA017472
- Variant:81
- CAID:CA018747
- Variant:14
- ClinVarID:67951
- ClinVarID:242192
- Variant:38
- Variant:83
- ClinVarID:67752
- CAID:CA014324
- Variant:67
- ClinVarID:67829
- Variant:47
- ClinVarID:67952
- CAID:CA015925
- CAID:CA016475
- CAID:CA352143498
- Variant:45
- CAID:CA016002
- ClinVarID:67873
- ClinVarID:67719
- Variant:72
- CAID:CA014257
- Variant:33
- ClinVarID:67830
- ClinVarID:9399
- CAID:CA017871
- CAID:CA064275
- Variant:69
- CAID:CA015938
- Variant:21
- Variant:56
- CAID:CA017888
- Variant:6
- ClinVarID:67723
- ClinVarID:67737
- ClinVarID:67877
- ClinVarID:9377
- ClinVarID:67957
- CAID:CA017547
- FuncAssay:1
- ValidationControl:Benign
- ClinVarID:67874
- ClinVarID:67940
- CGType:FunctionalAssayResult
- ClinVarID:68045
- CAID:CA016428
- CAID:CA019516
- Variant:63
- Variant:74
- ClinVarID:201506
- ClinVarID:518750
- CAID:CA016182
- ClinVarID:67986
- Variant:41
- ClinVarID:67751
- Variant:77
- Variant:76
- CAID:CA352139743
- ClinVarID:67820
- CAID:CA017796
- CAID:CA019148
- CAID:CA016420
- Variant:52
- CAID:CA016228
- CAID:CA017808
- CAID:CA016490
- ClinVarID:67864
- ClinVarID:67810
- Variant:4
- ClinVarID:67869
- Variant:19
- ClinVarID:67918
- CAID:CA018516
- CAID:CA016523
- Variant:48
- CAID:CA019690
- CAID:CA014455
- CAID:CA019856
- ClinVarID:67824
- CAID:CA018042
- CAID:CA352146767
- ClinVarID:67634
- Variant:16
- Variant:61
- Variant:30
- Variant:35
- Variant:29
- Variant:59
- Variant:20
- Variant:44
- ClinVarID:229230
- CAID:CA017399
- CAID:CA352149916
- ClinVarID:67787
- ClinVarID:67876
- ClinVarID:67971
- CAID:CA018048
- CAID:CA018735
- CAID:CA016384
- Variant:7
- CAID:CA017341
- ClinVarID:67734
- ClinVarID:67635
- CAID:CA019140
- Variant:11
- Variant:28
- Variant:39
- Variant:70
- Variant:54
- ClinVarID:68055
- CAID:CA352142022
- CG:BulkAnnotation
- ClinVarID:67960
- ClinVarID:48295
- ClinVarID:628262
- Variant:13
- Variant:26
- Variant:62
- CAID:CA017913
- ClinVarID:67640
- Variant:22
- Variant:66
- Variant:80
- CAID:CA016059
- Variant:65
- CAID:CA015974
- ClinVarID:48294
- ClinVarID:67736
- CAID:CA016995
- Variant:24
- Variant:42
- ClinVarID:67756
- ClinVarID:67747
- CAID:CA017969
- Variant:17
- Variant:12
- Variant:34
- Variant:51
- CAID:CA057036
- CAID:CA018087
- Variant:3
- Variant:5
- Variant:46
- ClinVarID:67757
- CAID:CA019045
- Variant:79
- CAID:CA017955
- Variant:36
- CAID:CA017494
- Variant:31
- CAID:CA017837
- CAID:CA018079
- CAID:CA064027
- CAID:CA018943
- CAID:CA014305
- ClinVarID:67720
- ClinVarID:67758
- Variant:25
- Variant:58
- ClinVarID:9396
- ClinVarID:67861
- Variant:60
- Variant:37
- CAID:CA019833
- CAID:CA019844
- ClinVarID:67742
- CAID:CA060381
- ClinVarID:463345
- Variant:49
- Variant:23
- CAID:CA016076
- Variant:2
- Variant:40
- Variant:82
- CAID:CA352149766
- ClinVarID:68049
- ClinVarID:201523
- CAID:CA016482
- CAID:CA352143353
- CAID:CA019926
- CAID:CA017679
- CAID:CA016221
- Variant:68
- ClinVarID:67642
- ClinVarID:9370
- CAID:CA017513
- ClinVarID:67807
Annotators
URL
-
- Feb 2021
-
jmg.bmj.com jmg.bmj.com
-
Supplemental material
AssayResult: 100
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 20.5
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 6.4
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 6.8
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 7.1
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 7.7
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 3.5
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 3.1
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 5
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 4.4
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 4.2
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 4.1
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 3.5
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 4.9
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 5.4
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 6.7
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 10.8
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 4.9
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 4.9
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 8.6
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 4
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 6
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 5.4
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 5.8
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 7.1
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 5.5
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 2.8
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 2
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 2.8
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 3.1
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 5.6
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 3.5
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 5.8
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.-117G>T
Tags
- ValidationControl:Pathogenic
- CAID:CA000106
- ClinVarID:100815
- Variant:9
- CAID:CA645369686
- Variant:43
- Variant:19
- CAID:CA645588993
- ClinVarID:12366
- CAID:CA1139768487
- ClinVarID:12379
- FuncAssay:3
- ClinVarID:142702
- ClinVarID:376613
- ClinVarID:428860
- Variant:32
- CGType:Variant
- FuncAssay:4
- ClinVarID:12374
- CAID:CA16603074
- CAID:CA000013
- Variant:27
- CAID:CA397836336
- CAID:CA497716198
- ClinVarID:458555
- Variant:1
- Variant:29
- Variant:30
- ClinVarID:12347
- Variant:44
- CAID:CA497925664
- CAID:CA000308
- ClinVarID:376649
- CAID:CA000251
- CAID:CA397837761
- Variant:50
- CAID:CA000256
- Variant:14
- Variant:11
- Variant:38
- CAID:CA000493
- Variant:28
- Variant:47
- Variant:39
- CAID:CA1139768486
- CAID:CA16603066
- ClinVarID:420137
- CAID:CA000382
- Variant:13
- ClinVarID:634779
- Variant:33
- CAID:CA16603033
- Variant:22
- CAID:CA397844631
- CAID:CA645588668
- Variant:21
- Variant:24
- CAID:CA000073
- Variant:34
- CAID:CA000374
- ClinVarID:41723
- Variant:51
- ClinVarID:12356
- ClinVarID:127815
- CAID:CA000468
- Variant:3
- ClinVarID:376612
- Variant:5
- Variant:31
- FuncAssay:1
- Variant:46
- CAID:CA000387
- CAID:CA397839547
- ClinVarID:135359
- CAID:CA000434
- CGType:FunctionalAssayResult
- Variant:37
- ClinVarID:182957
- Variant:49
- ClinVarID:12364
- ClinVarID:182965
- Variant:23
- Variant:2
- Variant:40
- CAID:CA000454
- ClinVarID:376659
- CAID:CA000302
- CAID:CA16603034
- ClinVarID:127825
- CAID:CA16620623
Annotators
URL
-
- Sep 2020
-
localhost:8001 localhost:8001
-
variant id lookup result: http://localhost:8001/test.html
-
- Jan 2020
-
www.sciencedirect.com www.sciencedirect.com
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/
-
-
www.sciencedirect.com www.sciencedirect.com
- Dec 2019
-
www.sciencedirect.com www.sciencedirect.com
-
variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/547946/
-
variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/547947/
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/545116/
-
- Oct 2019
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/559601/
-
- Sep 2019
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
variant id lookup result
-
variant id lookup result
-
variant id lookup result
-