Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.
American Journal Of Human Genetics
Arno, Gavin G; Agrawal, Smriti A SA; Eblimit, Aiden A; Bellingham, James J; Xu, Mingchu M; Wang, Feng F; Chakarova, Christina C; Parfitt, David A DA; Lane, Amelia A; Burgoyne, Thomas T; Hull, Sarah S; Carss, Keren J KJ; Fiorentino, Alessia A; Hayes, Matthew J MJ; Munro, Peter M PM; Nicols, Ralph R; Pontikos, Nikolas N; Holder, Graham E GE; , ; Asomugha, Chinwe C; Raymond, F Lucy FL; Moore, Anthony T AT; Plagnol, Vincent V; Michaelides, Michel M; Hardcastle, Alison J AJ; Li, Yumei Y; Cukras, Catherine C; Webster, Andrew R AR; Cheetham, Michael E ME; Chen, Rui R
Publication Date: 2016-12-01
Variant appearance in text: EPN3: 508C>T; Arg170Cys