Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.Q646fs
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SCN5A

NM_000335.5:p.Q646fs

Associated Papers

Noninvasive assessment of hydroquinidine effect in Brugada syndrome (QUIET BrS).

Isbister JC et al.

Heart Rhythm, 2025

Brugada syndrome in infants (<12 months): A case report and literature review.

Umapathi KK et al.

Pacing and Clinical Electrophysiology : Pace, 2024

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

Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.

Campuzano O et al.

Ebiomedicine, 2020

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.

Dewey FE et al.

Science (new York, N.y.), 2016

28008009 (PubMed )
Supplement: aaf6814-dewey-tabless1-s14.xlsx › Table_S13
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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."