A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome

European Journal of Human Genetics, Published online: 11 October 2023; doi:10.1038/s41431-023-01475-wA loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome

Source: European Journal of Human Genetics - October 11, 2023 Category: Genetics & Stem Cells Authors: Madiha Amin Malik Muhammad Arif Nadeem Saqib Edwin Mientjes Anushree Acharya Muhammad Rizwan Alam Ilse Wallaard Isabelle Schrauwen Michael J. Bamshad Regie Lyn P. Santos-Cortez Ype Elgersma Suzanne M. Leal Muhammad Ansar Source Type: research