Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.K97E
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SCN1A

NM_001165963.4:p.K97E

Associated Papers

Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome.

Delmiro A et al.

Human Mutation, 2013

24105702 (PubMed )
Supplement: supplement_1.pdf
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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."