. . . . . . . . . . . . "[All five probands with familial disease had a deletion mutation within the closely linked STX16 gene and a GNAS imprinting defect involving only the exon 1A region.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2014-02-25"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2014-10-02T12:38:57+02:00"^^ . . . . . . . . . . . "v2.1.0.0" . "v2.1.0" .