Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP34246.RAl34vHh9bJfq3tkUPbp-1M8Nbs_0mWKmdlYHTkkOdFzU130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP34246.RAl34vHh9bJfq3tkUPbp-1M8Nbs_0mWKmdlYHTkkOdFzU130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP34246.RAl34vHh9bJfq3tkUPbp-1M8Nbs_0mWKmdlYHTkkOdFzU130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP34246.RAl34vHh9bJfq3tkUPbp-1M8Nbs_0mWKmdlYHTkkOdFzU130_provenance.
- NP34246.RAl34vHh9bJfq3tkUPbp-1M8Nbs_0mWKmdlYHTkkOdFzU130_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." NP34246.RAl34vHh9bJfq3tkUPbp-1M8Nbs_0mWKmdlYHTkkOdFzU130_provenance.
- NP34246.RAl34vHh9bJfq3tkUPbp-1M8Nbs_0mWKmdlYHTkkOdFzU130_assertion evidence source_evidence_curated NP34246.RAl34vHh9bJfq3tkUPbp-1M8Nbs_0mWKmdlYHTkkOdFzU130_provenance.
- NP34246.RAl34vHh9bJfq3tkUPbp-1M8Nbs_0mWKmdlYHTkkOdFzU130_assertion SIO_000772 23599270 NP34246.RAl34vHh9bJfq3tkUPbp-1M8Nbs_0mWKmdlYHTkkOdFzU130_provenance.
- NP34246.RAl34vHh9bJfq3tkUPbp-1M8Nbs_0mWKmdlYHTkkOdFzU130_assertion wasDerivedFrom ctd_human-20150221 NP34246.RAl34vHh9bJfq3tkUPbp-1M8Nbs_0mWKmdlYHTkkOdFzU130_provenance.
- NP34246.RAl34vHh9bJfq3tkUPbp-1M8Nbs_0mWKmdlYHTkkOdFzU130_assertion wasGeneratedBy ECO_0000218 NP34246.RAl34vHh9bJfq3tkUPbp-1M8Nbs_0mWKmdlYHTkkOdFzU130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP34246.RAl34vHh9bJfq3tkUPbp-1M8Nbs_0mWKmdlYHTkkOdFzU130_provenance.