Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.L729del1
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SCN5A

NM_000335.5:p.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

Familial Dilated Cardiomyopathy and Sudden Cardiac Arrest: New Association with a SCN5A Mutation.

Rico Y et al.

Genes, 2021

International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework.

James CA et al.

Circulation. Genomic and Precision Medicine, 2021

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

Life-long tailoring of diagnosis and management of patients with idiopathic ventricular fibrillation-future perspectives in research.

Blom LJ et al.

Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2018

The Cardiac Sodium Channel and Its Protein Partners.

Balse E et al.

Handbook of Experimental Pharmacology, 2018

Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis.

Te Riele AS et al.

Cardiovascular Research, 2017

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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."