Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP914.RAu6HFdlVshGXEimaiOrEqimg5ywz2LbQMob0sDOrNV1o130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP914.RAu6HFdlVshGXEimaiOrEqimg5ywz2LbQMob0sDOrNV1o130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP914.RAu6HFdlVshGXEimaiOrEqimg5ywz2LbQMob0sDOrNV1o130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP914.RAu6HFdlVshGXEimaiOrEqimg5ywz2LbQMob0sDOrNV1o130_provenance.
- NP914.RAu6HFdlVshGXEimaiOrEqimg5ywz2LbQMob0sDOrNV1o130_assertion description "[Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP914.RAu6HFdlVshGXEimaiOrEqimg5ywz2LbQMob0sDOrNV1o130_provenance.
- NP914.RAu6HFdlVshGXEimaiOrEqimg5ywz2LbQMob0sDOrNV1o130_assertion evidence source_evidence_curated NP914.RAu6HFdlVshGXEimaiOrEqimg5ywz2LbQMob0sDOrNV1o130_provenance.
- NP914.RAu6HFdlVshGXEimaiOrEqimg5ywz2LbQMob0sDOrNV1o130_assertion SIO_000772 15572418 NP914.RAu6HFdlVshGXEimaiOrEqimg5ywz2LbQMob0sDOrNV1o130_provenance.
- NP914.RAu6HFdlVshGXEimaiOrEqimg5ywz2LbQMob0sDOrNV1o130_assertion wasDerivedFrom uniprot-20130724 NP914.RAu6HFdlVshGXEimaiOrEqimg5ywz2LbQMob0sDOrNV1o130_provenance.
- NP914.RAu6HFdlVshGXEimaiOrEqimg5ywz2LbQMob0sDOrNV1o130_assertion wasGeneratedBy ECO_0000218 NP914.RAu6HFdlVshGXEimaiOrEqimg5ywz2LbQMob0sDOrNV1o130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP914.RAu6HFdlVshGXEimaiOrEqimg5ywz2LbQMob0sDOrNV1o130_provenance.