Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1362409.RAtn2a_z_mO77JPk_Pe9eJVi0bVO55Nm0huPkruqY8URg#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom LHGDN provenance.
- assertion SIO_000772 17008356 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[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." provenance.