Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.A123E
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SCN5A

NM_000335.5:p.A123E

Associated Papers

Clinical Utility of Protein Language Models in Resolution of Variants of Uncertain Significance in KCNQ1, KCNH2, and SCN5A Compared With Patch-Clamp Functional Characterization.

Ye D et al.

Circulation. Genomic and Precision Medicine, 2024

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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."