Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP1472.RAMBZNshM5ULKjUXRMecBwD19p7Pau5U3jCFfc7_IIAuM130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1472.RAMBZNshM5ULKjUXRMecBwD19p7Pau5U3jCFfc7_IIAuM130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1472.RAMBZNshM5ULKjUXRMecBwD19p7Pau5U3jCFfc7_IIAuM130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1472.RAMBZNshM5ULKjUXRMecBwD19p7Pau5U3jCFfc7_IIAuM130_provenance.
- NP1472.RAMBZNshM5ULKjUXRMecBwD19p7Pau5U3jCFfc7_IIAuM130_assertion wasGeneratedBy ECO_0000218 NP1472.RAMBZNshM5ULKjUXRMecBwD19p7Pau5U3jCFfc7_IIAuM130_provenance.
- NP1472.RAMBZNshM5ULKjUXRMecBwD19p7Pau5U3jCFfc7_IIAuM130_assertion wasDerivedFrom uniprot-20130724 NP1472.RAMBZNshM5ULKjUXRMecBwD19p7Pau5U3jCFfc7_IIAuM130_provenance.
- NP1472.RAMBZNshM5ULKjUXRMecBwD19p7Pau5U3jCFfc7_IIAuM130_assertion SIO_000772 11565064 NP1472.RAMBZNshM5ULKjUXRMecBwD19p7Pau5U3jCFfc7_IIAuM130_provenance.
- NP1472.RAMBZNshM5ULKjUXRMecBwD19p7Pau5U3jCFfc7_IIAuM130_assertion evidence source_evidence_curated NP1472.RAMBZNshM5ULKjUXRMecBwD19p7Pau5U3jCFfc7_IIAuM130_provenance.
- NP1472.RAMBZNshM5ULKjUXRMecBwD19p7Pau5U3jCFfc7_IIAuM130_assertion description "[A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1472.RAMBZNshM5ULKjUXRMecBwD19p7Pau5U3jCFfc7_IIAuM130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP1472.RAMBZNshM5ULKjUXRMecBwD19p7Pau5U3jCFfc7_IIAuM130_provenance.