Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1766.RAlrHsBse44SbVhVA3zZVn4QkLvFPsCS-cqu3vuaOsY0s130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1766.RAlrHsBse44SbVhVA3zZVn4QkLvFPsCS-cqu3vuaOsY0s130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1766.RAlrHsBse44SbVhVA3zZVn4QkLvFPsCS-cqu3vuaOsY0s130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1766.RAlrHsBse44SbVhVA3zZVn4QkLvFPsCS-cqu3vuaOsY0s130_provenance.
- NP1766.RAlrHsBse44SbVhVA3zZVn4QkLvFPsCS-cqu3vuaOsY0s130_assertion description "[A hypermorphic missense mutation in PLCG2, encoding phospholipase CI32, causes a dominantly inherited autoinflammatory disease with immunodeficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1766.RAlrHsBse44SbVhVA3zZVn4QkLvFPsCS-cqu3vuaOsY0s130_provenance.
- NP1766.RAlrHsBse44SbVhVA3zZVn4QkLvFPsCS-cqu3vuaOsY0s130_assertion evidence source_evidence_curated NP1766.RAlrHsBse44SbVhVA3zZVn4QkLvFPsCS-cqu3vuaOsY0s130_provenance.
- NP1766.RAlrHsBse44SbVhVA3zZVn4QkLvFPsCS-cqu3vuaOsY0s130_assertion SIO_000772 23000145 NP1766.RAlrHsBse44SbVhVA3zZVn4QkLvFPsCS-cqu3vuaOsY0s130_provenance.
- NP1766.RAlrHsBse44SbVhVA3zZVn4QkLvFPsCS-cqu3vuaOsY0s130_assertion wasDerivedFrom uniprot-20150221 NP1766.RAlrHsBse44SbVhVA3zZVn4QkLvFPsCS-cqu3vuaOsY0s130_provenance.
- NP1766.RAlrHsBse44SbVhVA3zZVn4QkLvFPsCS-cqu3vuaOsY0s130_assertion wasGeneratedBy ECO_0000218 NP1766.RAlrHsBse44SbVhVA3zZVn4QkLvFPsCS-cqu3vuaOsY0s130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP1766.RAlrHsBse44SbVhVA3zZVn4QkLvFPsCS-cqu3vuaOsY0s130_provenance.