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Filters: Author is Graham, Brett H and Keyword is DNA Helicases [Clear All Filters]
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Hum Mutat. 2017 ;38(10):1365-1371.
. Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology. BMC Med Genet. 2013 ;14:83.
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