Varaico: Literature-Extracted Genetic Variants

Gene:SCN8A
Variant:p.V1757I
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SCN8A

NM_001330260.2:p.V1757I

Associated Papers

Neoantigen landscape supports feasibility of personalized cancer vaccine for follicular lymphoma.

Ramirez CA et al.

Blood Advances, 2024

38713894 (PubMed )
Supplement: BLOODA_ADV-2022-007792-mmc6.xlsx › Supp_Table6

Machine learning models reveal distinct disease subgroups and improve diagnostic and prognostic accuracy for individuals with pathogenic SCN8A gain-of-function variants.

Hack JB et al.

Biology Open, 2024

38466077 (PubMed )
Supplement: biolopen-13-060286-TableS1.xlsx › Sheet1

Variant-specific changes in persistent or resurgent sodium current in SCN8A-related epilepsy patient-derived neurons.

Tidball AM et al.

Brain : a Journal of Neurology, 2020

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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."