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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCN1A

Variant:p.L273Q

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SCN1A

NM_001165963.4:p.L273Q

hg38:chr2:166051865 A>T

Associated Papers

Holistic Exome-Based Genetic Testing in Adults With Epilepsy.

Krenn M et al.

Neurology. Genetics, 2025

40343077 (PubMed )

Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations.

Cho MJ et al.

Journal of Clinical Neurology (seoul, Korea), 2018

29141279 (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."