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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCN1A

Variant:p.Q1192_W1194delFs

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SCN1A

NM_006920.6:p.Q1192_W1194delFs

hg38:chr2:166013835 CACCAT>C

Associated Papers

Differential effects on sodium current impairments by distinct SCN1A mutations in GABAergic neurons derived from Dravet syndrome patients.

Kim HW et al.

Brain & Development, 2018

29295803 (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."