Varaico: Literature-Extracted Genetic Variants

Gene:SCN10A
Variant:p.S1337T
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SCN10A

NM_006514.4:p.S1337T

Associated Papers

Deleterious protein-altering mutations in the SCN10A voltage-gated sodium channel gene are associated with prolonged QT.

Abou Ziki MD et al.

Clinical Genetics, 2018

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy.

Kambouris M et al.

Annals of Clinical and Translational Neurology, 2017

Common and rare variants in SCN10A modulate the risk of atrial fibrillation.

Jabbari J et al.

Circulation. Cardiovascular Genetics, 2015

Mutations in SCN10A are responsible for a large fraction of cases of Brugada syndrome.

Hu D et al.

Journal of the American College of Cardiology, 2014

The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overview.

Ferraro TN et al.

Epilepsy & Behavior : E&b, 2005

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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."