Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP7220.RAs3dqMGwgjGoAIe0mUBdVyFwhF58UV28MFSSQggD1Z1E130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP7220.RAs3dqMGwgjGoAIe0mUBdVyFwhF58UV28MFSSQggD1Z1E130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP7220.RAs3dqMGwgjGoAIe0mUBdVyFwhF58UV28MFSSQggD1Z1E130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP7220.RAs3dqMGwgjGoAIe0mUBdVyFwhF58UV28MFSSQggD1Z1E130_provenance.
- NP7220.RAs3dqMGwgjGoAIe0mUBdVyFwhF58UV28MFSSQggD1Z1E130_assertion description "[A hypermorphic missense mutation in PLCG2, encoding phospholipase C?2, causes a dominantly inherited autoinflammatory disease with immunodeficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7220.RAs3dqMGwgjGoAIe0mUBdVyFwhF58UV28MFSSQggD1Z1E130_provenance.
- NP7220.RAs3dqMGwgjGoAIe0mUBdVyFwhF58UV28MFSSQggD1Z1E130_assertion evidence source_evidence_curated NP7220.RAs3dqMGwgjGoAIe0mUBdVyFwhF58UV28MFSSQggD1Z1E130_provenance.
- NP7220.RAs3dqMGwgjGoAIe0mUBdVyFwhF58UV28MFSSQggD1Z1E130_assertion SIO_000772 23000145 NP7220.RAs3dqMGwgjGoAIe0mUBdVyFwhF58UV28MFSSQggD1Z1E130_provenance.
- NP7220.RAs3dqMGwgjGoAIe0mUBdVyFwhF58UV28MFSSQggD1Z1E130_assertion wasDerivedFrom uniprot-2016 NP7220.RAs3dqMGwgjGoAIe0mUBdVyFwhF58UV28MFSSQggD1Z1E130_provenance.
- NP7220.RAs3dqMGwgjGoAIe0mUBdVyFwhF58UV28MFSSQggD1Z1E130_assertion wasGeneratedBy ECO_0000218 NP7220.RAs3dqMGwgjGoAIe0mUBdVyFwhF58UV28MFSSQggD1Z1E130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP7220.RAs3dqMGwgjGoAIe0mUBdVyFwhF58UV28MFSSQggD1Z1E130_provenance.