148 Matching Annotations
  1. Last 7 days
  2. Mar 2021
    1. WT-PALB2 was associated with robust formation of damage-induced RAD51 foci, whereas the four variants were associated with defective foci formation (Fig. 3d, e).

      AssayResult: 1.5

      AssayResultAssertion: Abnormal

      Approximation: Exact assay result value not reported; value estimated from Figure 3e.

    2. WT-PALB2 was associated with robust formation of damage-induced RAD51 foci, whereas the four variants were associated with defective foci formation (Fig. 3d, e).

      AssayResult: <1

      AssayResultAssertion: Abnormal

      Approximation: Exact assay result value not reported; value estimated from Figure 3e.

    3. WT-PALB2 was associated with robust formation of damage-induced RAD51 foci, whereas the four variants were associated with defective foci formation (Fig. 3d, e).

      AssayResult: 1

      AssayResultAssertion: Abnormal

      Approximation: Exact assay result value not reported; value estimated from Figure 3e.

    4. WT-PALB2 was associated with robust formation of damage-induced RAD51 foci, whereas the four variants were associated with defective foci formation (Fig. 3d, e).

      AssayResult: 3

      AssayResultAssertion: Abnormal

      Approximation: Exact assay result value not reported; value estimated from Figure 3e.

    5. Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).

      AssayResult: 5.3

      AssayResultAssertion: Normal

      StandardErrorMean: 0.46

    6. A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected

      HGVS: NM_024675.3:c.1010T>C p.(Leu337Ser)

    1. SUPPLEMENTARY DATA

      AssayResult: 38

      AssayResultAssertion: Abnormal

      PValue: < 0.0001

      Approximation: Exact assay result value not reported; value estimated from Figure 6C.

    2. SUPPLEMENTARY DATA

      AssayResult: -34

      AssayResultAssertion: Abnormal

      PValue: < 0.0001

    3. SUPPLEMENTARY DATA

      AssayResult: -11

      AssayResultAssertion: Indeterminate

      PValue: Not reported

    4. SUPPLEMENTARY DATA

      AssayResult: -4

      AssayResultAssertion: Indeterminate

      PValue: Not reported

    5. SUPPLEMENTARY DATA

      AssayResult: -14

      AssayResultAssertion: Indeterminate

      PValue: Not reported

    6. SUPPLEMENTARY DATA

      AssayResult: -56

      AssayResultAssertion: Abnormal

      PValue: < 0.0001

    7. SUPPLEMENTARY DATA

      AssayResult: -6

      AssayResultAssertion: Normal

      PValue: Not reported

    8. SUPPLEMENTARY DATA

      AssayResult: -25

      AssayResultAssertion: Abnormal

      PValue: < 0.01

    9. SUPPLEMENTARY DATA

      AssayResult: -31

      AssayResultAssertion: Abnormal

      PValue: < 0.0001

    10. SUPPLEMENTARY DATA

      AssayResult: -16

      AssayResultAssertion: Normal

      PValue: Not reported

    11. SUPPLEMENTARY DATA

      AssayResult: -10

      AssayResultAssertion: Normal

      PValue: Not reported

    12. SUPPLEMENTARY DATA

      AssayResult: -21

      AssayResultAssertion: Indeterminate

      PValue: < 0.01

    13. SUPPLEMENTARY DATA

      AssayResult: -20

      AssayResultAssertion: Indeterminate

      PValue: < 0.05

    14. SUPPLEMENTARY DATA

      AssayResult: 8

      AssayResultAssertion: Indeterminate

      PValue: Not reported

    15. SUPPLEMENTARY DATA

      AssayResult: -29

      AssayResultAssertion: Abnormal

      PValue: < 0.0001

    16. SUPPLEMENTARY DATA

      AssayResult: -98

      AssayResultAssertion: Abnormal

      PValue: < 0.0001

    17. SUPPLEMENTARY DATA

      AssayResult: -36

      AssayResultAssertion: Abnormal

      PValue: < 0.0001

    18. SUPPLEMENTARY DATA

      AssayResult: 3

      AssayResultAssertion: Indeterminate

      PValue: Not reported

    19. SUPPLEMENTARY DATA

      AssayResult: -32

      AssayResultAssertion: Abnormal

      PValue: < 0.0001

    20. SUPPLEMENTARY DATA

      AssayResult: 85.76

      AssayResultAssertion: Indeterminate

      PValue: 0.0445

      Comment: Exact values reported in Table S3.

    21. To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.110G>A p.(Arg37His)

    1. Source Data

      AssayResult: 26.03

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 11.42

      Comment: Exact values reported in “Source Data” file.

    2. Source Data

      AssayResult: 24.27

      AssayResultAssertion: Abnormal

      ReplicateCount: Not reported

      StandardErrorMean: Not reported

      Comment: Exact values reported in “Supplementary Data 1” file; result for this variant not reported in “Source Data” file.

    3. Source Data

      AssayResult: 96.22

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 16.7

      Comment: Exact values reported in “Source Data” file. Discrepancy in “Supplementary Data 1” file: nucleotide reported as c.3191A>G.

    4. Source Data

      AssayResult: 15.23

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 6.42

      Comment: Exact values reported in “Source Data” file. Discrepancy in “Source Data” file: protein reported as Q899X.

    5. Source Data

      AssayResult: 52.23

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 6.33

      Comment: Exact values reported in “Source Data” file. Discrepancy in “Source Data” file: protein reported as I1037R.

    6. Source Data

      AssayResult: 74.36

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 1.89

      Comment: Exact values reported in “Source Data” file.

    7. Source Data

      AssayResult: 87.27

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 1.3

      Comment: Exact values reported in “Source Data” file.

    8. Source Data

      AssayResult: 102.22

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 8.29

      Comment: Exact values reported in “Source Data” file.

    9. Source Data

      AssayResult: 21.7

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 1.42

      Comment: Exact values reported in “Source Data” file.

    10. Source Data

      AssayResult: 55.4

      AssayResultAssertion: Not reported

      ReplicateCount: 4

      StandardErrorMean: 13.29

      Comment: Exact values reported in “Source Data” file.

    11. Source Data

      AssayResult: 17.5

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 7.75

      Comment: Exact values reported in “Source Data” file.

    12. Source Data

      AssayResult: 102.7

      AssayResultAssertion: Not reported

      ReplicateCount: 3

      StandardErrorMean: 12.82

      Comment: Exact values reported in “Source Data” file.

    13. Source Data

      AssayResult: 94.47

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 0.99

      Comment: Exact values reported in “Source Data” file.

    14. Source Data

      AssayResult: 13.87

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 1.32

      Comment: Exact values reported in “Source Data” file.

    15. Source Data

      AssayResult: 93.44

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 2.24

      Comment: Exact values reported in “Source Data” file.

    16. Source Data

      AssayResult: 9.67

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 1.31

      Comment: Exact values reported in “Source Data” file.

    17. Source Data

      AssayResult: 109.07

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 9.27

      Comment: Exact values reported in “Source Data” file.

    18. Source Data

      AssayResult: 98.64

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 5.5

      Comment: Exact values reported in “Source Data” file.

    19. Source Data

      AssayResult: 102.88

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 20.71

      Comment: Exact values reported in “Source Data” file.

    20. Source Data

      AssayResult: 16.6

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 4.35

      Comment: Exact values reported in “Source Data” file.

    21. Source Data

      AssayResult: 103.21

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 8.98

      Comment: Exact values reported in “Source Data” file.

    22. Source Data

      AssayResult: 108.27

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 16.12

      Comment: Exact values reported in “Source Data” file.

    23. Source Data

      AssayResult: 98.43

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 14.96

      Comment: Exact values reported in “Source Data” file.

    24. Source Data

      AssayResult: 102.57

      AssayResultAssertion: Not reported

      ReplicateCount: 3

      StandardErrorMean: 11.51

      Comment: Exact values reported in “Source Data” file.

    25. Source Data

      AssayResult: 103.83

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 3.67

      Comment: Exact values reported in “Source Data” file.

    26. Source Data

      AssayResult: 87.51

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 4.4

      Comment: Exact values reported in “Source Data” file.

    27. Source Data

      AssayResult: 56.67

      AssayResultAssertion: Not reported

      ReplicateCount: 4

      StandardErrorMean: 12.4

      Comment: Exact values reported in “Source Data” file.

    28. Source Data

      AssayResult: 85.13

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 15.04

      Comment: Exact values reported in “Source Data” file.

    29. Source Data

      AssayResult: 108.56

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 19.59

      Comment: Exact values reported in “Source Data” file.

    30. Source Data

      AssayResult: 10.42

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 0.01

      Comment: Exact values reported in “Source Data” file.

    31. Source Data

      AssayResult: 99.69

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 3.09

      Comment: Exact values reported in “Source Data” file.

    32. Source Data

      AssayResult: 12.35

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 1.48

      Comment: Exact values reported in “Source Data” file.

    33. Source Data

      AssayResult: 14.79

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 7.81

      Comment: Exact values reported in “Source Data” file.

    34. Source Data

      AssayResult: 84.41

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 1.42

      Comment: Exact values reported in “Source Data” file.

    35. Source Data

      AssayResult: 25.09

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 3.48

      Comment: Exact values reported in “Source Data” file.

    36. Source Data

      AssayResult: 97.37

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 5.14

      Comment: Exact values reported in “Source Data” file.

    37. Source Data

      AssayResult: 12.77

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 5.34

      Comment: Exact values reported in “Source Data” file.

    38. Source Data

      AssayResult: 78.91

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 6.86

      Comment: Exact values reported in “Source Data” file.

    39. Source Data

      AssayResult: 8.41

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 1.95

      Comment: Exact values reported in “Source Data” file.

    40. Source Data

      AssayResult: 24.31

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 5.23

      Comment: Exact values reported in “Source Data” file.

    41. Source Data

      AssayResult: 14.78

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 9.34

      Comment: Exact values reported in “Source Data” file.

    42. Source Data

      AssayResult: 81.17

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 9.32

      Comment: Exact values reported in “Source Data” file.

    43. Source Data

      AssayResult: 91.11

      AssayResultAssertion: Not reported

      ReplicateCount: 3

      StandardErrorMean: 17.74

      Comment: Exact values reported in “Source Data” file.

    44. Source Data

      AssayResult: 26.39

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 1.11

      Comment: Exact values reported in “Source Data” file.

    45. Source Data

      AssayResult: 94.54

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 19.94

      Comment: Exact values reported in “Source Data” file.

    46. Source Data

      AssayResult: 86.26

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 4.22

      Comment: Exact values reported in “Source Data” file.

    47. Source Data

      AssayResult: 7.73

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 2.25

      Comment: Exact values reported in “Source Data” file.

    48. Source Data

      AssayResult: 29.04

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 7.24

      Comment: Exact values reported in “Source Data” file.

    49. Source Data

      AssayResult: 115.45

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 11.81

      Comment: Exact values reported in “Source Data” file.

    50. Source Data

      AssayResult: 78.3

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 11.75

      Comment: Exact values reported in “Source Data” file.

    51. Source Data

      AssayResult: 86.54

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 11.96

      Comment: Exact values reported in “Source Data” file.

    52. Source Data

      AssayResult: 87.96

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 10.31

      Comment: Exact values reported in “Source Data” file.

    53. Source Data

      AssayResult: 78.2

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 7.31

      Comment: Exact values reported in “Source Data” file.

    54. Source Data

      AssayResult: 103.53

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 7.06

      Comment: Exact values reported in “Source Data” file.

    55. Source Data

      AssayResult: 19.46

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 1.75

      Comment: Exact values reported in “Source Data” file.

    56. Source Data

      AssayResult: 64.92

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 8.7

      Comment: Exact values reported in “Source Data” file.

    57. Source Data

      AssayResult: 11.06

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 2.4

      Comment: Exact values reported in “Source Data” file.

    58. Source Data

      AssayResult: 117.58

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 0.81

      Comment: Exact values reported in “Source Data” file.

    59. Source Data

      AssayResult: 10.68

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 0.32

      Comment: Exact values reported in “Source Data” file.

    60. Source Data

      AssayResult: 23.96

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 7.6

      Comment: Exact values reported in “Source Data” file.

    61. Source Data

      AssayResult: 120.54

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 11.09

      Comment: Exact values reported in “Source Data” file.

    62. Source Data

      AssayResult: 74.18

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 6.49

      Comment: Exact values reported in “Source Data” file.

    63. Source Data

      AssayResult: 95.74

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 14.87

      Comment: Exact values reported in “Source Data” file.

    64. Source Data

      AssayResult: 83.96

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 9.89

      Comment: Exact values reported in “Source Data” file.

    65. Source Data

      AssayResult: 94.84

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 20.56

      Comment: Exact values reported in “Source Data” file.

    66. Source Data

      AssayResult: 17.43

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 5.19

      Comment: Exact values reported in “Source Data” file.

    67. Source Data

      AssayResult: 108.51

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 17.71

      Comment: Exact values reported in “Source Data” file.

    68. Source Data

      AssayResult: 67.82

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 10.97

      Comment: Exact values reported in “Source Data” file.

    69. Source Data

      AssayResult: 72.7

      AssayResultAssertion: Not reported

      ReplicateCount: 3

      StandardErrorMean: 9.73

      Comment: Exact values reported in “Source Data” file.

    70. Source Data

      AssayResult: 9.68

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 3.44

      Comment: Exact values reported in “Source Data” file.

    71. Source Data

      AssayResult: 115.71

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 3.09

      Comment: Exact values reported in “Source Data” file.

    72. Source Data

      AssayResult: 11.28

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 1.24

      StandardErrorMean: 0.87

      Comment: Exact values reported in “Source Data” file.

    73. 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.104T>C p.(L35P)

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    1. 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)

    2. we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.1038G>T p.(Glu346Asp)

  3. Feb 2021
    1. Supplemental material

      AssayResult: 82

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    2. Supplemental material

      AssayResult: 80

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    3. Supplemental material

      AssayResult: 69

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    4. Supplemental material

      AssayResult: 99

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    5. Supplemental material

      AssayResult: 98

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    6. Supplemental material

      AssayResult: 77

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    7. Supplemental material

      AssayResult: 105

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    8. Supplemental material

      AssayResult: 96

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    9. Supplemental material

      AssayResult: 104

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    10. Supplemental material

      AssayResult: 99

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    11. Supplemental material

      AssayResult: 83

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    12. Supplemental material

      AssayResult: 91

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    13. Supplemental material

      AssayResult: 86

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    14. Supplemental material

      AssayResult: 56

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    15. Supplemental material

      AssayResult: 61

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    16. Supplemental material

      AssayResult: 51

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    17. Supplemental material

      AssayResult: 66

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    18. Supplemental material

      AssayResult: 60

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    19. Supplemental material

      AssayResult: 65

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    20. Supplemental material

      AssayResult: 66

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    21. Supplemental material

      AssayResult: 45

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    22. Supplemental material

      AssayResult: 58

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    23. Supplemental material

      AssayResult: 49

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    24. Supplemental material

      AssayResult: 83

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    25. Supplemental material

      AssayResult: 84

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    26. Supplemental material

      AssayResult: 91

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    27. Supplemental material

      AssayResult: 94

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    28. Supplemental material

      AssayResult: 97

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    29. Supplemental material

      AssayResult: 98

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    30. Supplemental material

      AssayResult: 96

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    31. Supplemental material

      AssayResult: 105

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    32. Supplemental material

      AssayResult: 7.1

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    33. 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: NM000546.5:c.(?-202)(*1207?)del p.?

      Comment: A CAID could not be generated for this deletion variant with uncertain breakpoints.

  4. Jan 2021
    1. This variant presents 14 non-synonymous mutations, 6 synonymous mutations and 3 deletions. The multiple mutations present in the viral RNA encoding for the spike protein (S) are of most concern, such as the deletion Δ69-70, deletion Δ144, N501Y, A570D, D614G, P681H, T716I, S982A, D1118H
  5. Jan 2020
  6. Dec 2019