[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.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE