Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.E951K
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SCN1A

NM_001165963.4:p.E951K

Associated Papers

Genotypic and phenotypic characteristics of sodium channel-associated epilepsy in Chinese population.

Dong R et al.

Journal of Human Genetics, 2024

Extending the Phenotype Related to SCN1A Gene: Arthrogryposis, Movement Disorders, and Malformations of Cortical Development.

Marco-Hernández AV et al.

Journal of Child Neurology, 2022

ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases.

Stagnaro M et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018

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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."