Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.L1786P
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SCN1A

NM_001165963.4:p.L1786P

Associated Papers

Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.

Cavirani B et al.

International Journal of Molecular Sciences, 2024

38279250 (PubMed )
Supplement: ijms-25-01248-s001.zip › Tab_supp_S1.xlsx › Foglio1

A single-center, retrospective analysis of genotype-phenotype correlations in children with Dravet syndrome.

Gertler TS et al.

Seizure, 2020

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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."