Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.F1671fs
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SCN1A

NM_001165963.4:p.F1671fs

Associated Papers

Corrigendum to "A single-center, retrospective analysis of genotype-phenotype correlations in children with Dravet syndrome" [Seizure: Eur. J. Epilepsy 75 (2020) 1-6].

Gertler TS et al.

Seizure, 2020

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

Trump N et al.

Journal of Medical Genetics, 2016

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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."