. . . . . . . "[Genetic studies identified de novo HRPT2 germline mutations in cases 1 (c.518_521delTGTC [p.Ser174LysfsX27]) and 2 (c.226�C?>?T [p.Arg76X]), unveiling the hereditary HPT-JT syndrome in both patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:18:53+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .