Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.Q1000*
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SCN5A

NM_000335.5:p.Q1000*

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 › S3

Sodium-channel blocker challenge in the familial screening of Brugada syndrome: Safety and predictors of positivity.

Therasse D et al.

Heart Rhythm, 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."