Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.Q1059*
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SCN5A

NM_000335.5:p.Q1059*

Associated Papers

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

32893267 (PubMed )
Supplement: 41436_2020_946_MOESM2_ESM.xlsx › S13

SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families.

Wijeyeratne YD et al.

Circulation. Genomic and Precision Medicine, 2020

33164571 (PubMed )
Supplement: hcg-13-e002911-s001.pdf

A comprehensive electrocardiographic, molecular, and echocardiographic study of Brugada syndrome: validation of the 2013 diagnostic criteria.

Savastano S et al.

Heart Rhythm, 2014

Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing.

Crotti L et al.

Journal of the American College of Cardiology, 2012

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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."