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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCN9A

Variant:p.L421S

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SCN9A

NM_001365536.1:p.L421S

hg38:chr2:166288489 A>G

Associated Papers

SCN1A gain of function effects in Dravet syndrome: Insights into clinical phenotypes and therapeutic implications.

Kobayashi Takahashi Y et al.

Epilepsia Open, 2025

40530598 (PubMed )

Supplement: EPI4-10-1236-s001.docx

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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."