. . . . . . . . . . . . "[We investigated the impact of the p.H507R amino acid change on REP1 structure and function, thus providing the first experimental demonstration that correlates a missense mutation in CHM with a functional impairment of REP1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . . "Gene-disease associations manually curated."@en . "DisGeNET evidence - CURATED"@en . "2013-07-24"^^ . "2014-10-02T12:31:58+02:00"^^ . . . . . . . . . . . "v2.1.0.0" . "v2.1.0" .