Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.S571T
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SCN5A

NM_000335.5:p.S571T

Associated Papers

In silico validation revealed the role of SCN5A mutations and their genotype-phenotype correlations in Brugada syndrome.

Pham HM et al.

Molecular Genetics & Genomic Medicine, 2023

Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brunklaus A et al.

Brain : a Journal of Neurology, 2022

35037686 (PubMed )
Supplement: awac006_Supplementary_Data.pdf

Genetic Characteristics and Transcriptional Regulation of Sodium Channel Related Genes in Chinese Patients With Brugada Syndrome.

Zhang Z et al.

Frontiers in Cardiovascular Medicine, 2021

Experimental Models of Brugada syndrome.

Sendfeld F et al.

International Journal of Molecular Sciences, 2019

31032819 (PubMed )
Supplement: ijms-20-02123-s001.pdf

[Functional analysis of a novel SCN5A mutation G1712C identified in Brugada syndrome].

Chen YY et al.

Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2016

A Novel SCN5A Variant Causes Temperature-Sensitive Loss Of Function in a Family with Symptomatic Brugada Syndrome, Cardiac Conduction Disease, and Sick Sinus Syndrome.

Sanner K et al.

Cardiology, 0

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