. . . . . . . "[In addition, this sequencing approach uncovered several additional novel somatic mutations in the genes SMARCA4, EPHA3, MYB, PDGFR-?, and PIK3CA.CONCLUSIONS AND RELEVANCE Our findings confirm the presence of somatic mutations inGNAQ in the affected skin of a patient with congenital PWS, as well as alterations in several other novel genes of possible importance in the pathogenesis of PWS that may also offer substantial therapeutic targets.]. 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 . "2017-10-17T13:15:21+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .