Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.R988W
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SCN5A

NM_000335.5:p.R988W

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

Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies.

Lu C et al.

Journal of Translational Medicine, 2018

30165862 (PubMed )
Supplement: 12967_2018_1605_MOESM3_ESM.xlsx › Sheet1

Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification.

Sommariva E et al.

European Journal of Human Genetics : Ejhg, 2013

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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."