Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.P1855L
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SCN1A

NM_001165963.4:p.P1855L

Associated Papers

Cerebral venous sinus thrombosis and SCN1A, a novel association?

Prasun P et al.

Molecular Biology Reports, 2024

SCN1A Channels a Wide Range of Epileptic Phenotypes: Report of Novel and Known Variants with Variable Presentations.

Veltra D et al.

International Journal of Molecular Sciences, 2024

Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.

Gonsales MC et al.

Frontiers in Neurology, 2019

31001185 (PubMed )
Supplement: Table_1.XLSX › SCN1A_Mutations_in_DS
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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."