. . . . . . . "[In the present study a novel homozygous PNPLA2 mutation c.475 _ 478dupCTCC (p.Gln160ProfsX19) in the patatin domain, the ATGL active site, was detected in a woman with NLSD and severe myopathy.]. 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 . "2017-10-17T13:18:44+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .