Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP12374.RAuamJsue21mFvj9yaMppHxUh_bfOFWr-ZcmWAzG1sTHM130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP12374.RAuamJsue21mFvj9yaMppHxUh_bfOFWr-ZcmWAzG1sTHM130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP12374.RAuamJsue21mFvj9yaMppHxUh_bfOFWr-ZcmWAzG1sTHM130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP12374.RAuamJsue21mFvj9yaMppHxUh_bfOFWr-ZcmWAzG1sTHM130_provenance.
- NP12374.RAuamJsue21mFvj9yaMppHxUh_bfOFWr-ZcmWAzG1sTHM130_assertion wasGeneratedBy ECO_0000218 NP12374.RAuamJsue21mFvj9yaMppHxUh_bfOFWr-ZcmWAzG1sTHM130_provenance.
- NP12374.RAuamJsue21mFvj9yaMppHxUh_bfOFWr-ZcmWAzG1sTHM130_assertion wasDerivedFrom ctd_human-20130708 NP12374.RAuamJsue21mFvj9yaMppHxUh_bfOFWr-ZcmWAzG1sTHM130_provenance.
- NP12374.RAuamJsue21mFvj9yaMppHxUh_bfOFWr-ZcmWAzG1sTHM130_assertion SIO_000772 11565064 NP12374.RAuamJsue21mFvj9yaMppHxUh_bfOFWr-ZcmWAzG1sTHM130_provenance.
- NP12374.RAuamJsue21mFvj9yaMppHxUh_bfOFWr-ZcmWAzG1sTHM130_assertion evidence source_evidence_curated NP12374.RAuamJsue21mFvj9yaMppHxUh_bfOFWr-ZcmWAzG1sTHM130_provenance.
- NP12374.RAuamJsue21mFvj9yaMppHxUh_bfOFWr-ZcmWAzG1sTHM130_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." NP12374.RAuamJsue21mFvj9yaMppHxUh_bfOFWr-ZcmWAzG1sTHM130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP12374.RAuamJsue21mFvj9yaMppHxUh_bfOFWr-ZcmWAzG1sTHM130_provenance.