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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACTL6B

Variant:p.V166M

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ACTL6B

NM_016188.5:p.V166M

hg38:chr7:100648795 C>T

Associated Papers

Modifier genes in SCN1A-related epilepsy syndromes.

de Lange IM et al.

Molecular Genetics & Genomic Medicine, 2020

32032478 (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."