@article{article, title = {{Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.}}, publisher = {{Elsevier (Cell Press)}}, url = {{https://eprints.whiterose.ac.uk/id/eprint/174965 }}, year = {{2021}}, month = {{6}}, author = {{Wright CF and Quaife NM and Ramos-Hernández L and Danecek P and Ferla MP and Samocha KE and Kaplanis J and Gardner EJ and Eberhardt RY and Chao KR and Karczewski KJ et al}}, doi = {{10.1016/j.ajhg.2021.04.025}}, volume = {{108}}, journal = {{American Journal of Human Genetics}}, issue = {{6}}, pages = {{1083-1094}}, note = {{Accessed on 2024/12/22}}}