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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNT1

Variant:p.S806A

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KCNT1

NM_020822.3:p.S806A

hg38:chr9:135777404 T>G

Associated Papers

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.

Barcia G et al.

Nature Genetics, 2012

23086397 (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."