Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.P1039S
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SCN5A

NM_000335.5:p.P1039S

Associated Papers

Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.

Parra-Perez AM et al.

Medcomm, 2025

40989574 (PubMed )
Supplement: MCO2-6-e70394-s001.xlsx › TableS15

An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy.

Hawley MH et al.

Human Mutation, 2020

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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."