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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNB1

Variant:p.Y420S

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KCNB1

NM_004975.4:p.Y420S

hg38:chr20:49374301 T>G

Associated Papers

De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing.

Saitsu H et al.

Scientific Reports, 2015

26477325 (PubMed )

Supplement: srep15199-s1.doc

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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."