Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.L221V
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SCN1A

NM_001165963.4:p.L221V

Associated Papers

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.

Palmer EE et al.

Molecular Psychiatry, 2018

27550844 (PubMed )
Supplement: mp2016135x1.doc

Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Wei F et al.

Neuroscience Bulletin, 2017

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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."