Varaico: Literature-Extracted Genetic Variants

Gene:SCN8A
Variant:p.Y1749C
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SCN8A

NM_001330260.2:p.Y1749C

Associated Papers

Genetic Etiology of Developmental and Epileptic Encephalopathy in a Turkish Cohort: A Single-Center Study with Targeted Gene Panel and Whole Exome Sequencing.

Sunnetci-Akkoyunlu D et al.

Genes, 2025

Clinical and genetic spectrum of 355 Chinese children with epilepsy: a trio-sequencing-based study.

Duan J et al.

Brain : a Journal of Neurology, 2022

35231114 (PubMed )
Supplement: awac053_supplementary_data.zip › brain-2021-02368-File005.pdf
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