Publication
Heterozygous variants in ACTL6A
, encoding a component of the BAF complex, are associated with intellectual disability
MAROM et al.
Ronit Marom, Mahim Jain, Lindsay C. Burrage, I-Wen Song, Brett H. Graham, Chester W. Brown, Servi J.C. Stevens, Alexander P.A. Stegmann, Andrew T. Gunter, Julie D. Kaplan, Ralitza H. Gavrilova, Marwan Shinawi, Jill A. Rosenfeld, Yangjin Bae, Alyssa A. Tran, Yuqing Chen, James T. Lu, Richard A. Gibbs, Christine Eng, Yaping Yang, Justine Rousseau, Bert B.A. de Vries, Philippe M. Campeau, Brendan Lee
Human Mutation, July 2017, Wiley
DOI: 10.1002/humu.23282