Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.A1180V
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SCN5A

NM_198056.3:p.A1180V

Associated Papers

Characterization of a novel SCN5A mutation associated with long QT syndrome and arrhythmogenic right ventricular cardiomyopathy in a family.

Li R et al.

Forensic Science, Medicine, and Pathology, 2025

Advancing precision medicine through the integration of clinical cardiovascular genetics - An Asian perspective.

Balakrishnan ID et al.

Genetics in Medicine Open, 2024

Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.

Cong PK et al.

Clinical and Translational Medicine, 2022

Familial Dilated Cardiomyopathy and Sudden Cardiac Arrest: New Association with a SCN5A Mutation.

Rico Y et al.

Genes, 2021

SCN5A Variants: Association With Cardiac Disorders.

Li W et al.

Frontiers in Physiology, 2018

The role of mutations in the SCN5A gene in cardiomyopathies.

Zaklyazminskaya E et al.

Biochimica Et Biophysica Acta, 2016

Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths.

Wang D et al.

Forensic Science International, 2014

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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."