Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.N1391fs
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SCN1A

NM_001165963.4:p.N1391fs

Associated Papers

Prediction of molecular phenotypes for novel SCN1A variants from a Turkish genetic epilepsy syndromes cohort and report of two new patients with recessive Dravet syndrome.

Teralı K et al.

Clinical and Translational Science, 2024

Genetic Landscape of SCN1A Variants in a Turkish Cohort with GEFS+ Spectrum and Dravet Syndrome.

Türkyılmaz A et al.

Molecular Syndromology, 2022

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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."