. . . . . . . "[C3orf29 encodes hJUMPY, a phosphoinositide 3-phosphate phosphatase that acts on PtdIns3P and PtdIns (3, 5) P2/missense mutation disrupts the catalytic activity in a patient with centronuclear 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 . "2017-10-17T13:18:50+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .