Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1766.RAlrHsBse44SbVhVA3zZVn4QkLvFPsCS-cqu3vuaOsY0s130_assertion> ?p ?o ?g. }
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- NP1766.RAlrHsBse44SbVhVA3zZVn4QkLvFPsCS-cqu3vuaOsY0s130_assertion type Assertion NP1766.RAlrHsBse44SbVhVA3zZVn4QkLvFPsCS-cqu3vuaOsY0s130_head.
- 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.