. . . . . . . . . . . . "[Recurrent missense (R197C) and nonsense (Y89X) mutations in the XLRS1 gene in families with X-linked retinoschisis.]. 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 . "2015-02-21"^^ . "2015-08-25T14:37:42+02:00"^^ . . . . . . . . . . . "v3.0.0.0" . "v3.0.0" .