Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability.
Tatour Y, Sanchez-Navarro I, Chervinsky E, Hakonarson H, Gawi H, Tahsin-Swafiri S, Leibu R, Lopez-Molina MI, Fernandez-Sanz G, Ayuso C, et al. J Med Genet. 2017 Sep 18; 54(10):698-704. Epub 2017 Aug 9.