Varaico: Literature-Extracted Genetic Variants

Gene:SCN4A
Variant:p.Q469L
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SCN4A

NM_000334.4:p.Q469L

Associated Papers

Novel compound heterozygous mutations in SCN4A as a potential genetic cause contributing to myopathic manifestations: A case report and literature review.

Han JY et al.

Heliyon, 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."