Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.R971C
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SCN5A

NM_000335.5:p.R971C

Associated Papers

Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Huang W et al.

Protein & Cell, 2017

Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.

Loussouarn G et al.

Frontiers in Pharmacology, 2015

Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

Tester DJ et al.

Heart Rhythm, 2005

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."