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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCN5A

Variant:p.E675delFs

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SCN5A

NM_000335.5:p.E675delFs

hg38:chr3:38597965 ACT>A

Associated Papers

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

20129283 (PubMed )

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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."