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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACTL6B

Variant:p.K109K

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ACTL6B

NM_016188.5:p.K109K

hg38:chr7:100655061 C>T

Associated Papers

Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.

Valencia AM et al.

Nature Genetics, 2023

37500730 (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."