Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.
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Hum Mutat. 2017 Oct;38(10):1365-1371. doi: 10.1002/humu.23282. Epub 2017 Jul 10.
Hum Mutat. 2017.
PMID: 28649782
Free PMC article.