Varaico: Literature-Extracted Genetic Variants

Gene:SCN8A
Variant:p.R850G
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SCN8A

NM_001330260.2:p.R850G

Associated Papers

Expanding the Clinical Spectrum of SCN8A-Related Epileptic Encephalopathy: Additional Auditory Impairment, Atypical MRI Abnormalities and Putative Mitochondrial Involvement.

Maalej M et al.

Journal of Molecular Neuroscience : Mn, 2026

Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy.

Tsang MH et al.

Epilepsia Open, 2019

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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."