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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCN1B

Variant:p.C121C

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SCN1B

NM_001037.5:p.C121C

hg38:chr19:35033654 C>T

Associated Papers

Comment: Dravet syndrome--"old gene," novel mechanism.

Xu M

Neurology, 2014

24623837 (PubMed )

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

Carvill GL et al.

Neurology, 2014

24623842 (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."