Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP418658.RAbKk81aG3g-FFIBEeBYPEyyArHr6_ZtTTv7AmAgPt3As130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP418658.RAbKk81aG3g-FFIBEeBYPEyyArHr6_ZtTTv7AmAgPt3As130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP418658.RAbKk81aG3g-FFIBEeBYPEyyArHr6_ZtTTv7AmAgPt3As130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP418658.RAbKk81aG3g-FFIBEeBYPEyyArHr6_ZtTTv7AmAgPt3As130_provenance.
- NP418658.RAbKk81aG3g-FFIBEeBYPEyyArHr6_ZtTTv7AmAgPt3As130_assertion description "[In contrast, ClCN7 mutations were found in 12 cases (13%) of severe osteopetrosis, but only 7 of them had two recessive mutations identified: in 6 of these 7 cases, central nervous system manifestations were noted, and these patients had a poor prognosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP418658.RAbKk81aG3g-FFIBEeBYPEyyArHr6_ZtTTv7AmAgPt3As130_provenance.
- NP418658.RAbKk81aG3g-FFIBEeBYPEyyArHr6_ZtTTv7AmAgPt3As130_assertion evidence source_evidence_literature NP418658.RAbKk81aG3g-FFIBEeBYPEyyArHr6_ZtTTv7AmAgPt3As130_provenance.
- NP418658.RAbKk81aG3g-FFIBEeBYPEyyArHr6_ZtTTv7AmAgPt3As130_assertion SIO_000772 14584882 NP418658.RAbKk81aG3g-FFIBEeBYPEyyArHr6_ZtTTv7AmAgPt3As130_provenance.
- NP418658.RAbKk81aG3g-FFIBEeBYPEyyArHr6_ZtTTv7AmAgPt3As130_assertion wasDerivedFrom befree-2016 NP418658.RAbKk81aG3g-FFIBEeBYPEyyArHr6_ZtTTv7AmAgPt3As130_provenance.
- NP418658.RAbKk81aG3g-FFIBEeBYPEyyArHr6_ZtTTv7AmAgPt3As130_assertion wasGeneratedBy ECO_0000203 NP418658.RAbKk81aG3g-FFIBEeBYPEyyArHr6_ZtTTv7AmAgPt3As130_provenance.
- befree-2016 importedOn "2016-02-19" NP418658.RAbKk81aG3g-FFIBEeBYPEyyArHr6_ZtTTv7AmAgPt3As130_provenance.