Varaico: Literature-Extracted Genetic Variants

Gene:SCN8A
Variant:p.V211G
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SCN8A

NM_001330260.2:p.V211G

Associated Papers

Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability.

Ehtesham N et al.

Archives of Iranian Medicine, 2022

37543906 (PubMed )
Supplement: aim-25-788-s002.xlsx › Table_S1.4

Association of early-onset epileptic encephalopathy with involuntary movements - Case series and literature review.

Arisaka A et al.

Epilepsy & Behavior Reports, 2021

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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."