Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1290103.RA8el3WgYp_uqenkDnKYiYBjPyfrvRqIN6AcwEoP2sDIA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1290103.RA8el3WgYp_uqenkDnKYiYBjPyfrvRqIN6AcwEoP2sDIA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1290103.RA8el3WgYp_uqenkDnKYiYBjPyfrvRqIN6AcwEoP2sDIA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1290103.RA8el3WgYp_uqenkDnKYiYBjPyfrvRqIN6AcwEoP2sDIA130_provenance.
- NP1290103.RA8el3WgYp_uqenkDnKYiYBjPyfrvRqIN6AcwEoP2sDIA130_assertion description "[Paternal Somatic Mosaicism of a Novel Frameshift Mutation in ELANE Causing Severe Congenital Neutropenia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1290103.RA8el3WgYp_uqenkDnKYiYBjPyfrvRqIN6AcwEoP2sDIA130_provenance.
- NP1290103.RA8el3WgYp_uqenkDnKYiYBjPyfrvRqIN6AcwEoP2sDIA130_assertion evidence source_evidence_literature NP1290103.RA8el3WgYp_uqenkDnKYiYBjPyfrvRqIN6AcwEoP2sDIA130_provenance.
- NP1290103.RA8el3WgYp_uqenkDnKYiYBjPyfrvRqIN6AcwEoP2sDIA130_assertion SIO_000772 26174650 NP1290103.RA8el3WgYp_uqenkDnKYiYBjPyfrvRqIN6AcwEoP2sDIA130_provenance.
- NP1290103.RA8el3WgYp_uqenkDnKYiYBjPyfrvRqIN6AcwEoP2sDIA130_assertion wasDerivedFrom befree-2016 NP1290103.RA8el3WgYp_uqenkDnKYiYBjPyfrvRqIN6AcwEoP2sDIA130_provenance.
- NP1290103.RA8el3WgYp_uqenkDnKYiYBjPyfrvRqIN6AcwEoP2sDIA130_assertion wasGeneratedBy ECO_0000203 NP1290103.RA8el3WgYp_uqenkDnKYiYBjPyfrvRqIN6AcwEoP2sDIA130_provenance.
- befree-2016 importedOn "2016-02-19" NP1290103.RA8el3WgYp_uqenkDnKYiYBjPyfrvRqIN6AcwEoP2sDIA130_provenance.