Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.V300I
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SCN5A

NM_000335.5:p.V300I

Associated Papers

A novel missense mutation, I890T, in the pore region of cardiac sodium channel causes Brugada syndrome.

Tarradas A et al.

Plos One, 2013

23308164 (PubMed )
Supplement: pone.0053220.s002.doc

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."