Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.A582D
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SCN5A

NM_000335.5:p.A582D

Associated Papers

Precision medicine for long QT syndrome: patient-specific iPSCs take the lead.

Yu Y et al.

Expert Reviews in Molecular Medicine, 2023

High Prevalence of Late-Appearing T-Wave in Patients With Long QT Syndrome Type 8.

Fukuyama M et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2020

Calcium Revisited: New Insights Into the Molecular Basis of Long-QT Syndrome.

Giudicessi JR et al.

Circulation. Arrhythmia and Electrophysiology, 2016

Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes.

Fukuyama M et al.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 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."