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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACTL6A

Variant:p.I18T

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ACTL6A

NM_004301.5:p.I18T

hg38:chr3:179569851 T>C

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."