Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP579.RAkHkrC1CDW3mPOGdgAa12StK44PCEco792VSmvKv8Dlw130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP579.RAkHkrC1CDW3mPOGdgAa12StK44PCEco792VSmvKv8Dlw130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP579.RAkHkrC1CDW3mPOGdgAa12StK44PCEco792VSmvKv8Dlw130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP579.RAkHkrC1CDW3mPOGdgAa12StK44PCEco792VSmvKv8Dlw130_provenance.
- NP579.RAkHkrC1CDW3mPOGdgAa12StK44PCEco792VSmvKv8Dlw130_assertion description "[Perinatal lethal osteogenesis imperfecta is the result of heterozygous mutations of the COL1A1 and COL1A2 genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP579.RAkHkrC1CDW3mPOGdgAa12StK44PCEco792VSmvKv8Dlw130_provenance.
- NP579.RAkHkrC1CDW3mPOGdgAa12StK44PCEco792VSmvKv8Dlw130_assertion evidence source_evidence_curated NP579.RAkHkrC1CDW3mPOGdgAa12StK44PCEco792VSmvKv8Dlw130_provenance.
- NP579.RAkHkrC1CDW3mPOGdgAa12StK44PCEco792VSmvKv8Dlw130_assertion SIO_000772 10627137 NP579.RAkHkrC1CDW3mPOGdgAa12StK44PCEco792VSmvKv8Dlw130_provenance.
- NP579.RAkHkrC1CDW3mPOGdgAa12StK44PCEco792VSmvKv8Dlw130_assertion wasDerivedFrom uniprot-2016 NP579.RAkHkrC1CDW3mPOGdgAa12StK44PCEco792VSmvKv8Dlw130_provenance.
- NP579.RAkHkrC1CDW3mPOGdgAa12StK44PCEco792VSmvKv8Dlw130_assertion wasGeneratedBy ECO_0000218 NP579.RAkHkrC1CDW3mPOGdgAa12StK44PCEco792VSmvKv8Dlw130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP579.RAkHkrC1CDW3mPOGdgAa12StK44PCEco792VSmvKv8Dlw130_provenance.