Loss-of-function in IRF2BPL is associated with neurological phenotypes
Paul C. Marcogliese, Vandana Shashi, Rebecca C. Spillmann, Nicholas Stong, Jill Anne Rosenfeld, Mary Kay Koenig, Julián A. Martínez-Agosto, Matthew R. Herzog, Agnes H. Chen, Patricia Dickson, Henry J. Lin, Moin U. Vera, Noriko Salamon, John M. Graham, Damara N. Ortiz, , Noah D. Friedman
This study identifies damaging variants in IRF2BPL associated with neurological phenotypes in humans and shows functional conservation in fruit flies.
The American Journal of Human Genetics · Jul 26, 2018Peer-reviewedGenetics