Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP33705.RACjSXcGTBvbIGAS8eULrDFJemAZupPhhXkb8t7VgtPj8130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP33705.RACjSXcGTBvbIGAS8eULrDFJemAZupPhhXkb8t7VgtPj8130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP33705.RACjSXcGTBvbIGAS8eULrDFJemAZupPhhXkb8t7VgtPj8130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP33705.RACjSXcGTBvbIGAS8eULrDFJemAZupPhhXkb8t7VgtPj8130_provenance.
- NP33705.RACjSXcGTBvbIGAS8eULrDFJemAZupPhhXkb8t7VgtPj8130_assertion description "[The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP33705.RACjSXcGTBvbIGAS8eULrDFJemAZupPhhXkb8t7VgtPj8130_provenance.
- NP33705.RACjSXcGTBvbIGAS8eULrDFJemAZupPhhXkb8t7VgtPj8130_assertion evidence source_evidence_curated NP33705.RACjSXcGTBvbIGAS8eULrDFJemAZupPhhXkb8t7VgtPj8130_provenance.
- NP33705.RACjSXcGTBvbIGAS8eULrDFJemAZupPhhXkb8t7VgtPj8130_assertion SIO_000772 23599270 NP33705.RACjSXcGTBvbIGAS8eULrDFJemAZupPhhXkb8t7VgtPj8130_provenance.
- NP33705.RACjSXcGTBvbIGAS8eULrDFJemAZupPhhXkb8t7VgtPj8130_assertion wasDerivedFrom ctd_human-20130708 NP33705.RACjSXcGTBvbIGAS8eULrDFJemAZupPhhXkb8t7VgtPj8130_provenance.
- NP33705.RACjSXcGTBvbIGAS8eULrDFJemAZupPhhXkb8t7VgtPj8130_assertion wasGeneratedBy ECO_0000218 NP33705.RACjSXcGTBvbIGAS8eULrDFJemAZupPhhXkb8t7VgtPj8130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP33705.RACjSXcGTBvbIGAS8eULrDFJemAZupPhhXkb8t7VgtPj8130_provenance.