Citations 2

Heterozygous variants inACTL6A, encoding a component of the BAF complex, are associated with intellectual disability

Human Mutation | June 26, 2017 | Volume: 38 | Issue: 10 | Pages: 1365-1371

10.1002/humu.23282 | PMID 28649782

Expanding the Molecular and Clinical Phenotype of SSR4-CDG

Human Mutation | August 12, 2015 | Volume: 36 | Issue: 11 | Pages: 1048-1051

10.1002/humu.22856 | PMID 26264460