Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.F945fs
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SCN1A

NM_001165963.4:p.F945fs

Associated Papers

Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.

Martins Custodio H et al.

Brain : a Journal of Neurology, 2023

37006128 (PubMed )
Supplement: awad111_supplementary_data.zip › brain-2022-01408-File008.xlsx › Sheet_1

Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies.

Balestrini S et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 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."