Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.E417A
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SCN5A

NM_000335.5:p.E417A

Associated Papers

Hemizygous splicing variant in CNKSR2 results in X-linked intellectual developmental disorder.

Lou Y et al.

Molecular Genetics & Genomic Medicine, 2024

38337158 (PubMed )
Supplement: MGG3-12-e2389-s001.xlsx › Sheet1

Veratridine Can Bind to a Site at the Mouth of the Channel Pore at Human Cardiac Sodium Channel NaV1.5.

Gulsevin A et al.

International Journal of Molecular Sciences, 2022

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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."