Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.F861delFs
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SCN5A

NM_000335.5:p.F861delFs

Associated Papers

Structural Heart Alterations in Brugada Syndrome: Is it Really a Channelopathy? A Systematic Review.

Oliva A et al.

Journal of Clinical Medicine, 2022

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 › S3

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

No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy.

Hoorntje ET et al.

Plos One, 2018

30161220 (PubMed )
Supplement: pone.0203078.s001.xlsx › S1_Table

[Brugada syndrome--a rare cause of syncope and sudden death].

Levin CG et al.

Lakartidningen, 2015

Yield of molecular and clinical testing for arrhythmia syndromes: report of 15 years' experience.

Hofman N et al.

Circulation, 2013

Facilitatory and inhibitory effects of SCN5A mutations on atrial fibrillation in Brugada syndrome.

Amin AS et al.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2011

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.

Kapplinger JD et al.

Heart Rhythm, 2010

Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.

Meregalli PG et al.

Heart Rhythm, 2009

Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: different incidences in familial and sporadic disease.

Schulze-Bahr E et al.

Human Mutation, 2003

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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."