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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCN1A

Variant:p.W1812C

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SCN1A

NM_001165963.4:p.W1812C

hg38:chr2:165991839 C>A

Associated Papers

A catalog of SCN1A variants.

Lossin C

Brain & Development, 2009

18804930 (PubMed )

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.

Nabbout R et al.

Neurology, 2003

12821740 (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."