ACTL6A

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Marom R, et al. Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Hum Mutat. 2017;38(10):1365-1371. PMID: 28649782.


(including CNVs and structural chromosome anomalies identified by sequence-based methods such as array, WES and/or WGS)