Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.Q1912*
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SCN1A

NM_006920.6:p.Q1912*

Associated Papers

SCN1A-Characterization of the Gene's Variants in the Polish Cohort of Patients with Dravet Syndrome: One Center Experience.

Stawicka E et al.

Current Issues in Molecular Biology, 2024

Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family.

Azmanov DN et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2010

Case Series of Early SCN1A-Related Developmental and Epileptic Encephalopathies.

Gowda VK et al.

Journal of Pediatric Neurosciences, 0

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