Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP3774.RAXk14dd6uSbmHEYrZ9Y0A-SKdJbX3ee7zH4Tqxj3MbdE130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3774.RAXk14dd6uSbmHEYrZ9Y0A-SKdJbX3ee7zH4Tqxj3MbdE130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3774.RAXk14dd6uSbmHEYrZ9Y0A-SKdJbX3ee7zH4Tqxj3MbdE130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3774.RAXk14dd6uSbmHEYrZ9Y0A-SKdJbX3ee7zH4Tqxj3MbdE130_provenance.
- NP3774.RAXk14dd6uSbmHEYrZ9Y0A-SKdJbX3ee7zH4Tqxj3MbdE130_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." NP3774.RAXk14dd6uSbmHEYrZ9Y0A-SKdJbX3ee7zH4Tqxj3MbdE130_provenance.
- NP3774.RAXk14dd6uSbmHEYrZ9Y0A-SKdJbX3ee7zH4Tqxj3MbdE130_assertion evidence source_evidence_curated NP3774.RAXk14dd6uSbmHEYrZ9Y0A-SKdJbX3ee7zH4Tqxj3MbdE130_provenance.
- NP3774.RAXk14dd6uSbmHEYrZ9Y0A-SKdJbX3ee7zH4Tqxj3MbdE130_assertion SIO_000772 15572418 NP3774.RAXk14dd6uSbmHEYrZ9Y0A-SKdJbX3ee7zH4Tqxj3MbdE130_provenance.
- NP3774.RAXk14dd6uSbmHEYrZ9Y0A-SKdJbX3ee7zH4Tqxj3MbdE130_assertion wasDerivedFrom uniprot-2016 NP3774.RAXk14dd6uSbmHEYrZ9Y0A-SKdJbX3ee7zH4Tqxj3MbdE130_provenance.
- NP3774.RAXk14dd6uSbmHEYrZ9Y0A-SKdJbX3ee7zH4Tqxj3MbdE130_assertion wasGeneratedBy ECO_0000218 NP3774.RAXk14dd6uSbmHEYrZ9Y0A-SKdJbX3ee7zH4Tqxj3MbdE130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP3774.RAXk14dd6uSbmHEYrZ9Y0A-SKdJbX3ee7zH4Tqxj3MbdE130_provenance.