Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.Q646fs
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SCN5A

NM_000335.5:p.Q646fs

Associated Papers

A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.

Kingsmore SF et al.

American Journal of Human Genetics, 2022

36007526 (PubMed )
Supplement: mmc2.xlsx › Table_S8

Early-Onset Atrial Fibrillation and the Prevalence of Rare Variants in Cardiomyopathy and Arrhythmia Genes.

Yoneda ZT et al.

Jama Cardiology, 2021

34495297 (PubMed )
Supplement: jamacardiol-e213370-s001.pdf

Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Van Hout CV et al.

Nature, 2020

33087929 (PubMed )
Supplement: 41586_2020_2853_MOESM11_ESM.xlsx › Sheet1

An autoantibody profile detects Brugada syndrome and identifies abnormally expressed myocardial proteins.

Chatterjee D et al.

European Heart Journal, 2020

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

Wright CF et al.

American Journal of Human Genetics, 2019

30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
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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."