Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.P1011L
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SCN5A

NM_000335.5:p.P1011L

Associated Papers

Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.

Halford JL et al.

Nature Communications, 2022

36042188 (PubMed )
Supplement: 41467_2022_32009_MOESM4_ESM.xlsx › Supplementary_Data_1

The role of sodium channels in sudden unexpected death in pediatrics.

Rochtus AM et al.

Molecular Genetics & Genomic Medicine, 2020

32449611 (PubMed )
Supplement: MGG3-8-e1309-s002.xlsx › S1_Table

A Bayesian method to estimate variant-induced disease penetrance.

Kroncke BM et al.

Plos Genetics, 2020

32569262 (PubMed )
Supplement: pgen.1008862.s017.docx

Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea.

Son MJ et al.

Journal of Korean Medical Science, 2018

Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence.

Ioakeimidis NS et al.

Journal of Biological Research (thessalonike, Greece), 2017

Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths.

Wang D et al.

Forensic Science International, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."