. . . . . . . "[study reports a novel LMX1B gene mutation c.368 _ 369delTG, p.C123X in a Japanese girl with the typical nail changes of nail-patella syndrome; the proband's father carried the same mutation, although his fingernails were intact]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2009-03-31"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:14:19+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .