Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP8207.RAKTrzaIO-P8msCbC2RbIi1ODa78fJCab6KJj1FS3LBB4130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP8207.RAKTrzaIO-P8msCbC2RbIi1ODa78fJCab6KJj1FS3LBB4130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP8207.RAKTrzaIO-P8msCbC2RbIi1ODa78fJCab6KJj1FS3LBB4130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP8207.RAKTrzaIO-P8msCbC2RbIi1ODa78fJCab6KJj1FS3LBB4130_provenance.
- NP8207.RAKTrzaIO-P8msCbC2RbIi1ODa78fJCab6KJj1FS3LBB4130_assertion description "[Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha 1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP8207.RAKTrzaIO-P8msCbC2RbIi1ODa78fJCab6KJj1FS3LBB4130_provenance.
- NP8207.RAKTrzaIO-P8msCbC2RbIi1ODa78fJCab6KJj1FS3LBB4130_assertion evidence source_evidence_curated NP8207.RAKTrzaIO-P8msCbC2RbIi1ODa78fJCab6KJj1FS3LBB4130_provenance.
- NP8207.RAKTrzaIO-P8msCbC2RbIi1ODa78fJCab6KJj1FS3LBB4130_assertion SIO_000772 2745420 NP8207.RAKTrzaIO-P8msCbC2RbIi1ODa78fJCab6KJj1FS3LBB4130_provenance.
- NP8207.RAKTrzaIO-P8msCbC2RbIi1ODa78fJCab6KJj1FS3LBB4130_assertion wasDerivedFrom uniprot-2016 NP8207.RAKTrzaIO-P8msCbC2RbIi1ODa78fJCab6KJj1FS3LBB4130_provenance.
- NP8207.RAKTrzaIO-P8msCbC2RbIi1ODa78fJCab6KJj1FS3LBB4130_assertion wasGeneratedBy ECO_0000218 NP8207.RAKTrzaIO-P8msCbC2RbIi1ODa78fJCab6KJj1FS3LBB4130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP8207.RAKTrzaIO-P8msCbC2RbIi1ODa78fJCab6KJj1FS3LBB4130_provenance.