. . . . . . . "[To characterise the childhood retinal phenotype associated with recessive mutations in retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), a gene that has been infrequently associated with Leber congenital amaurosis, the most severe form of childhood non-syndromic retinal dystrophy.]. 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 . "2017-10-17T13:18:44+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .