Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.E867*
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SCN5A

NM_000335.5:p.E867*

Associated Papers

[Brugada syndrome--a rare cause of syncope and sudden death].

Levin CG et al.

Lakartidningen, 2015

p.Y1449C SCN5A mutation associated with overlap disorder comprising conduction disease, Brugada syndrome, and atrial flutter.

Hothi SS et al.

Journal of Cardiovascular Electrophysiology, 2015

State of the art in forensic investigation of sudden cardiac death.

Oliva A et al.

The American Journal of Forensic Medicine and Pathology, 2011

Phenotypic overlap of cardiac sodium channelopathies: individual-specific or mutation-specific?

Makita N

Circulation Journal : Official Journal of the Japanese Circulation Society, 2009

Cardiac sodium channel overlap syndromes: different faces of SCN5A mutations.

Remme CA et al.

Trends in Cardiovascular Medicine, 2008

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

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."