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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACTL6A

Variant:p.L403_G404Splc

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ACTL6A

NM_004301.5:p.L403_G404Splc

hg38:chr3:179586633 G>C

Associated Papers

Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.

Marom R et al.

Human Mutation, 2017

28649782 (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."