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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCN4A

Variant:p.A699delFs

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SCN4A

NM_000334.4:p.A699delFs

hg38:chr17:63957441 CG>C

Associated Papers

Myotonia congenita: mutation spectrum of CLCN1 in Spanish patients.

Milla CP et al.

Journal of Genetics, 2019

31544778 (PubMed )

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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."