Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.L917R
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SCN5A

NM_000335.5:p.L917R

Associated Papers

Identification of a SCN5A Genetic Variant Associated With Type 1 Brugada Syndrome (BrS) in a Family.

Jnani J et al.

Cureus, 2024

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.

Kapplinger JD et al.

Heart Rhythm, 2010

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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."