Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP8801.RAAfXldNSo2qrkQAgaaQeg3NM6py5iDiCc9H41lnvcbyE130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP8801.RAAfXldNSo2qrkQAgaaQeg3NM6py5iDiCc9H41lnvcbyE130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP8801.RAAfXldNSo2qrkQAgaaQeg3NM6py5iDiCc9H41lnvcbyE130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP8801.RAAfXldNSo2qrkQAgaaQeg3NM6py5iDiCc9H41lnvcbyE130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP8801.RAAfXldNSo2qrkQAgaaQeg3NM6py5iDiCc9H41lnvcbyE130_provenance.
- NP8801.RAAfXldNSo2qrkQAgaaQeg3NM6py5iDiCc9H41lnvcbyE130_assertion wasGeneratedBy ECO_0000218 NP8801.RAAfXldNSo2qrkQAgaaQeg3NM6py5iDiCc9H41lnvcbyE130_provenance.
- NP8801.RAAfXldNSo2qrkQAgaaQeg3NM6py5iDiCc9H41lnvcbyE130_assertion wasDerivedFrom uniprot-2016 NP8801.RAAfXldNSo2qrkQAgaaQeg3NM6py5iDiCc9H41lnvcbyE130_provenance.
- NP8801.RAAfXldNSo2qrkQAgaaQeg3NM6py5iDiCc9H41lnvcbyE130_assertion SIO_000772 8223589 NP8801.RAAfXldNSo2qrkQAgaaQeg3NM6py5iDiCc9H41lnvcbyE130_provenance.
- NP8801.RAAfXldNSo2qrkQAgaaQeg3NM6py5iDiCc9H41lnvcbyE130_assertion evidence source_evidence_curated NP8801.RAAfXldNSo2qrkQAgaaQeg3NM6py5iDiCc9H41lnvcbyE130_provenance.
- NP8801.RAAfXldNSo2qrkQAgaaQeg3NM6py5iDiCc9H41lnvcbyE130_assertion description "[Gly85 to Val substitution in pro alpha 1(I) chain causes mild osteogenesis imperfecta and introduces a susceptibility to protease digestion.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP8801.RAAfXldNSo2qrkQAgaaQeg3NM6py5iDiCc9H41lnvcbyE130_provenance.