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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCN1A

Variant:p.L893_T894del2

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SCN1A

NM_001165963.4:p.L893_T894del2

hg38:chr2:166038039 GGGTTAA>G

Associated Papers

Early clinical features in Dravet syndrome patients with and without SCN1A mutations.

Petrelli C et al.

Epilepsy Research, 2012

22071555 (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."