Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.Q573*
Back to variants list

SCN5A

NM_000335.5:p.Q573*

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

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

Campuzano O et al.

Ebiomedicine, 2020

Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort.

Selga E et al.

Plos One, 2015

Follicle stimulating hormone receptor gene variants in women with primary and secondary amenorrhea.

Achrekar SK et al.

Journal of Assisted Reproduction and Genetics, 2010

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

[Successful treatment of a child with sick sinus syndrome and recurrent ventricular fibrillation].

Belebez'ev GI et al.

Pediatriia, 1986

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."