Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.I230V
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SCN5A

NM_000335.5:p.I230V

Associated Papers

A homozygous SCN5A mutation in a severe, recessive type of cardiac conduction disease.

Neu A et al.

Human Mutation, 2010

A new approach to long QT syndrome mutation detection by Sequenom MassARRAY system.

Allegue C et al.

Electrophoresis, 2010

Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: different incidences in familial and sporadic disease.

Schulze-Bahr E et al.

Human Mutation, 2003

Genetic control of sodium channel function.

Tan HL et al.

Cardiovascular Research, 2003

SCN5A channelopathies--an update on mutations and mechanisms.

Zimmer T et al.

Progress in Biophysics and Molecular Biology, 0

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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."