Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.C1354delFs
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SCN1A

NM_001165963.4:p.C1354delFs

Associated Papers

SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signature.

LaFlamme CW et al.

Epilepsia, 2025

39932319 (PubMed )
Supplement: EPI-66-e66-s002.xlsx › Supplementary_Data_1

Developmental and epileptic encephalopathy: Personal utility of a genetic diagnosis for families.

Jeffrey JS et al.

Epilepsia Open, 2021

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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."