. . . . . . . "[Of our five patients, two had a heterozygous missense mutation in exon 2 of TGF?1 (c.466C>T, p.Arg156Cys, previously described in Camurati-Engelmann syndrome) and three had commonly found TGF?1 polymorphisms.]. 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 . "2017-10-17T13:16:40+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .