. . . . . . . "[Three children (two families; assessed at 2?years old) and two adults (one family; assessed at 24 and 35?years old) with homozygous PRPH2 mutations (c.497G>A (p.Cys166Tyr) or c.136C>T (p.Arg46*)) all had infantile nystagmus and decreased vision noted soon after birth and a history of staring at lights during infancy (photophilia).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:15:55+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .