Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP1302.RAh1cHeWiWI_8daxm29g3ku7DYuhHuqzqjz9X2dvRrqqk130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1302.RAh1cHeWiWI_8daxm29g3ku7DYuhHuqzqjz9X2dvRrqqk130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1302.RAh1cHeWiWI_8daxm29g3ku7DYuhHuqzqjz9X2dvRrqqk130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1302.RAh1cHeWiWI_8daxm29g3ku7DYuhHuqzqjz9X2dvRrqqk130_provenance.
- NP1302.RAh1cHeWiWI_8daxm29g3ku7DYuhHuqzqjz9X2dvRrqqk130_assertion description "[Substitution of cysteine for glycine at residue 415 of one allele of the alpha 1(I) chain of type I procollagen in type III/IV osteogenesis imperfecta.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1302.RAh1cHeWiWI_8daxm29g3ku7DYuhHuqzqjz9X2dvRrqqk130_provenance.
- NP1302.RAh1cHeWiWI_8daxm29g3ku7DYuhHuqzqjz9X2dvRrqqk130_assertion evidence source_evidence_curated NP1302.RAh1cHeWiWI_8daxm29g3ku7DYuhHuqzqjz9X2dvRrqqk130_provenance.
- NP1302.RAh1cHeWiWI_8daxm29g3ku7DYuhHuqzqjz9X2dvRrqqk130_assertion SIO_000772 1770532 NP1302.RAh1cHeWiWI_8daxm29g3ku7DYuhHuqzqjz9X2dvRrqqk130_provenance.
- NP1302.RAh1cHeWiWI_8daxm29g3ku7DYuhHuqzqjz9X2dvRrqqk130_assertion wasDerivedFrom uniprot-20130724 NP1302.RAh1cHeWiWI_8daxm29g3ku7DYuhHuqzqjz9X2dvRrqqk130_provenance.
- NP1302.RAh1cHeWiWI_8daxm29g3ku7DYuhHuqzqjz9X2dvRrqqk130_assertion wasGeneratedBy ECO_0000218 NP1302.RAh1cHeWiWI_8daxm29g3ku7DYuhHuqzqjz9X2dvRrqqk130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP1302.RAh1cHeWiWI_8daxm29g3ku7DYuhHuqzqjz9X2dvRrqqk130_provenance.