- Jan 2025
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usrussiarelations.org usrussiarelations.org
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Alexis Babine
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- Aug 2024
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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mitfab692/+
DOI: 10.1093/toxsci/kfad031
Resource: ZFIN_ZDB-GENO-070209-49
Curator: @olekpark
SciCrunch record: RRID:ZFIN_ZDB-GENO-070209-49
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- Jun 2024
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clerc-avocat.fr clerc-avocat.fr
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Dans un récent jugement, le tribunal administratif de Lyon est venu rappeler les obligations qui incombent au Rectorat lors de la convocation de l’élève devant la commission académique d’appel (article R. 511-49 du code de l’éducation).
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- Oct 2023
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claudemariottini.com claudemariottini.com
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A special use of the word “stone” = ʼben was to designate a name of the God of Israel: Yahweh is “The Stone of Israel” (Genesis 49:24).
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- 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: 4
AssayResultAssertion: Indeterminate
StandardErrorMean: 0.07
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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.3061G>A p.(Gly1021Arg)
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Source Data
AssayResult: 128.59
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 14.72
Comment: Exact values reported in “Source Data” file.
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Source Data
AssayResult: 87.27
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 1.3
Comment: Exact values reported in “Source Data” file.
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Source Data
AssayResult: 101.02
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 5.45
StandardErrorMean: 3.86
Comment: Exact values reported in “Source Data” file. Discrepancy in “Source Data” file: protein reported as T1064C.
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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.3191A>G p.(Y1064C)
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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: 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)
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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.4109A>G p.(Asp1370Gly)
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- Feb 2021
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jmg.bmj.com jmg.bmj.com
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Supplemental material
AssayResult: 99
AssayResultAssertion: Normal
Comment: See Table S2 for details
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Supplemental material
AssayResult: 7.7
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
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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.869G>A p.(Arg290His)
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- Jan 2017
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jonudell.net jonudell.net
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- Oct 2016
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archive.is archive.is
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10 Oct 2016 22:13:49 UTC
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