Identification of CNTN2 as a genetic modifier of PIGA-CDG through pedigree analysis of a family with incomplete penetrance and functional testing in Drosophila
Holly J. Thorpe, Brent S. Pedersen, Miranda Dietze, Nichole Link, Aaron R. Quinlan, Joshua L. Bonkowsky, Ashley E. Thomas, Clement Y. Chow
bioRxiv · Aug 12, 2024 · PreprintGenetics