Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP133.RAQI9X3Pv0YZxtoCLpiMaN3H2ya_mOFko9KN9fELRdZUk130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP133.RAQI9X3Pv0YZxtoCLpiMaN3H2ya_mOFko9KN9fELRdZUk130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP133.RAQI9X3Pv0YZxtoCLpiMaN3H2ya_mOFko9KN9fELRdZUk130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP133.RAQI9X3Pv0YZxtoCLpiMaN3H2ya_mOFko9KN9fELRdZUk130_provenance.
- NP133.RAQI9X3Pv0YZxtoCLpiMaN3H2ya_mOFko9KN9fELRdZUk130_assertion description "[A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP133.RAQI9X3Pv0YZxtoCLpiMaN3H2ya_mOFko9KN9fELRdZUk130_provenance.
- NP133.RAQI9X3Pv0YZxtoCLpiMaN3H2ya_mOFko9KN9fELRdZUk130_assertion evidence source_evidence_curated NP133.RAQI9X3Pv0YZxtoCLpiMaN3H2ya_mOFko9KN9fELRdZUk130_provenance.
- NP133.RAQI9X3Pv0YZxtoCLpiMaN3H2ya_mOFko9KN9fELRdZUk130_assertion SIO_000772 20137779 NP133.RAQI9X3Pv0YZxtoCLpiMaN3H2ya_mOFko9KN9fELRdZUk130_provenance.
- NP133.RAQI9X3Pv0YZxtoCLpiMaN3H2ya_mOFko9KN9fELRdZUk130_assertion wasDerivedFrom uniprot-20130724 NP133.RAQI9X3Pv0YZxtoCLpiMaN3H2ya_mOFko9KN9fELRdZUk130_provenance.
- NP133.RAQI9X3Pv0YZxtoCLpiMaN3H2ya_mOFko9KN9fELRdZUk130_assertion wasGeneratedBy ECO_0000218 NP133.RAQI9X3Pv0YZxtoCLpiMaN3H2ya_mOFko9KN9fELRdZUk130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP133.RAQI9X3Pv0YZxtoCLpiMaN3H2ya_mOFko9KN9fELRdZUk130_provenance.