- Mar 2021
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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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: 0.5
AssayResultAssertion: Abnormal
StandardErrorMean: 0.05
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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.3362delG p.(Gly1121Valfs*3)
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Source Data
AssayResult: 55.4
AssayResultAssertion: Not reported
ReplicateCount: 4
StandardErrorMean: 13.29
Comment: Exact values reported in “Source Data” file.
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Source Data
AssayResult: 20.32
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardDeviation: 0.49
StandardErrorMean: 0.35
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.71T>C p.(L24S)
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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: 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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we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.5038G>A p.(Ala1680Thr)
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- Nov 2018
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docdrop.org docdrop.org
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DISOLUCIÓN ANTICIPADA DE LAS CÁMARAS Cuya finalidad es reforzar la mayoría parlamentaria del gobierno a base de una nueva elección electoral. La iniciativa es que el Presidente tenga deliberación con el Consejo de Ministros. Sus aspectos son : 1 Que el decreto este firmado por el Rey y refrendado por el Presidente. art 64 2 Debe de haber una convocatoria electoral. art 68 3 Puede afectar a una o las dos Cámaras. Título III. Sus límites son: -No puede haber una disolución anticipada mediante una moción de censura. art 113. -No puede haber una nueva disolución sin haber pasado un año del anterior. art 115 y art 99 -No puede haber disolución en los supuestos del art.116.
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- May 2015
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shakespeare.mit.edu shakespeare.mit.edu
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ACT I
ACT I at 68..73
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ACT I
ACT I at 68..73
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ACT I
ACT I at 68..73
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