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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCN1A

Variant:p.T199fs

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SCN1A

NM_001165963.4:p.T199fs

hg38:chr2:166054645 TGT>N

Associated Papers

The Role of Focal Epilepsy Features in Defining SCN1A Mutation-positive Dravet Syndrome as Generalized and Focal Epilepsy.

Ko YJ et al.

Journal of Epilepsy Research, 2021

35087721 (PubMed )

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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."