. . . . . . . . . . . . "[Mutations in CPS1 were identified in 16 of 18 patients with a clinical diagnosis of CPS1D.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2015-02-21"^^ . . "Gene-disease associations manually curated."@en . "DisGeNET evidence - CURATED"@en . "2015-08-25T14:37:47+02:00"^^ . . . . . . . . . . . "v3.0.0.0" . "v3.0.0" .