Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.E1795E
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SCN1A

NM_006920.6:p.E1795E

Associated Papers

Determination of SCN1A genetic variants in Mexican patients with refractory epilepsy and Dravet syndrome.

Jiménez-Arredondo RE et al.

Genetics and Molecular Research : Gmr, 2017

Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2.

Maksemous N et al.

Molecular Genetics & Genomic Medicine, 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."