Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.V728_L729del1
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SCN5A

NM_000335.5:p.V728_L729del1

Associated Papers

SCN5A Cardiomyopathy: from Ion Channel Dysfunction To Clinical Disease.

Heymans ABM et al.

Current Cardiology Reports, 2025

The genetic basis of apparently idiopathic ventricular fibrillation: a retrospective overview.

Verheul LM 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, 2023

Arrhythmic Phenotypes Are a Defining Feature of Dilated Cardiomyopathy-Associated SCN5A Variants: A Systematic Review.

Peters S et al.

Circulation. Genomic and Precision 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 › S11
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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."