Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.E1794fs
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SCN1A

NM_001165963.4:p.E1794fs

Associated Papers

Validation of targeted next-generation sequencing panels in a cohort of Polish patients with epilepsy: assessing variable performance across clinical endophenotypes and uncovering novel genetic variants.

Badura-Stronka M et al.

Frontiers in Neurology, 2023

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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."