Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.S1346P
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SCN1A

NM_001165963.4:p.S1346P

Associated Papers

Age at onset of genetic disease and genetic dependent stage: evidence from cases with SCN1A variants.

Luo S et al.

Brain : a Journal of Neurology, 2025

The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.

Brunklaus A et al.

Brain : a Journal of Neurology, 2022

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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."