Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP1299.RAkDYI4rXXATac1CpBZ388VrAgdC4bF5C7GqiROGonpRI130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1299.RAkDYI4rXXATac1CpBZ388VrAgdC4bF5C7GqiROGonpRI130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1299.RAkDYI4rXXATac1CpBZ388VrAgdC4bF5C7GqiROGonpRI130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1299.RAkDYI4rXXATac1CpBZ388VrAgdC4bF5C7GqiROGonpRI130_provenance.
- NP1299.RAkDYI4rXXATac1CpBZ388VrAgdC4bF5C7GqiROGonpRI130_assertion description "[A cysteine for glycine substitution at position 175 in an alpha 1 (I) chain of type I collagen produces a clinically heterogeneous form of osteogenesis imperfecta.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1299.RAkDYI4rXXATac1CpBZ388VrAgdC4bF5C7GqiROGonpRI130_provenance.
- NP1299.RAkDYI4rXXATac1CpBZ388VrAgdC4bF5C7GqiROGonpRI130_assertion evidence source_evidence_curated NP1299.RAkDYI4rXXATac1CpBZ388VrAgdC4bF5C7GqiROGonpRI130_provenance.
- NP1299.RAkDYI4rXXATac1CpBZ388VrAgdC4bF5C7GqiROGonpRI130_assertion SIO_000772 8339541 NP1299.RAkDYI4rXXATac1CpBZ388VrAgdC4bF5C7GqiROGonpRI130_provenance.
- NP1299.RAkDYI4rXXATac1CpBZ388VrAgdC4bF5C7GqiROGonpRI130_assertion wasDerivedFrom uniprot-20130724 NP1299.RAkDYI4rXXATac1CpBZ388VrAgdC4bF5C7GqiROGonpRI130_provenance.
- NP1299.RAkDYI4rXXATac1CpBZ388VrAgdC4bF5C7GqiROGonpRI130_assertion wasGeneratedBy ECO_0000218 NP1299.RAkDYI4rXXATac1CpBZ388VrAgdC4bF5C7GqiROGonpRI130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP1299.RAkDYI4rXXATac1CpBZ388VrAgdC4bF5C7GqiROGonpRI130_provenance.