Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP1271.RApWdFpf93pt5JcO_2b50KJQjgi38p9zQayIXLKvClHXk130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1271.RApWdFpf93pt5JcO_2b50KJQjgi38p9zQayIXLKvClHXk130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1271.RApWdFpf93pt5JcO_2b50KJQjgi38p9zQayIXLKvClHXk130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1271.RApWdFpf93pt5JcO_2b50KJQjgi38p9zQayIXLKvClHXk130_provenance.
- NP1271.RApWdFpf93pt5JcO_2b50KJQjgi38p9zQayIXLKvClHXk130_assertion description "[The substitution of arginine for glycine 85 of the alpha 1(I) procollagen chain results in mild osteogenesis imperfecta. The mutation provides direct evidence for three discrete domains of cooperative melting of intact type I collagen.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1271.RApWdFpf93pt5JcO_2b50KJQjgi38p9zQayIXLKvClHXk130_provenance.
- NP1271.RApWdFpf93pt5JcO_2b50KJQjgi38p9zQayIXLKvClHXk130_assertion evidence source_evidence_curated NP1271.RApWdFpf93pt5JcO_2b50KJQjgi38p9zQayIXLKvClHXk130_provenance.
- NP1271.RApWdFpf93pt5JcO_2b50KJQjgi38p9zQayIXLKvClHXk130_assertion SIO_000772 1718984 NP1271.RApWdFpf93pt5JcO_2b50KJQjgi38p9zQayIXLKvClHXk130_provenance.
- NP1271.RApWdFpf93pt5JcO_2b50KJQjgi38p9zQayIXLKvClHXk130_assertion wasDerivedFrom uniprot-20130724 NP1271.RApWdFpf93pt5JcO_2b50KJQjgi38p9zQayIXLKvClHXk130_provenance.
- NP1271.RApWdFpf93pt5JcO_2b50KJQjgi38p9zQayIXLKvClHXk130_assertion wasGeneratedBy ECO_0000218 NP1271.RApWdFpf93pt5JcO_2b50KJQjgi38p9zQayIXLKvClHXk130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP1271.RApWdFpf93pt5JcO_2b50KJQjgi38p9zQayIXLKvClHXk130_provenance.