Varaico: Literature-Extracted Genetic Variants

Gene:SCN4A
Variant:p.F1519S
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SCN4A

NM_000334.4:p.F1519S

Associated Papers

Hydrops fetalis due to loss of function of hNav1.4 channel via compound heterozygous variants.

Kubota T et al.

Journal of Human Genetics, 2025

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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."