. . . . . . . "[A novel sex-determining region on Y (SRY) missense mutation identified in a 46,XY female and also in the father.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-01-25"^^ . . "Gene-disease associations manually curated."@en . "DisGeNET evidence - CURATED"@en . "2017-10-17T13:16:26+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .