. . . . . . . "[Sequence analysis of a candidate gene at this locus, ADAMTSL2, which is responsible for the human TGF? dysregulation syndrome, Geleophysic Dysplasia (GD), uncovered a mutation in exon 7 (c.660C>T; p.R221C) perfectly associated with MLS (p-value=10(-12)).]. 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 . "2017-10-17T13:17:48+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .