. . . . . . . "[3 novel mutations in PORCN, c.373+1G > A, c.737 _ 738insA & c.1094G > A (p.R365Q), were identified in focal dermal hypoplasia patients (FDH); study shows PORCN is gene responsible for FDH in different populations & extends number of confirmed mutations to 26]. 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 . "2017-10-17T13:18:51+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .