http://rdf.disgenet.org/resource/nanopub/NP224896.RA0e5f98EvEw4T-3QgYrB_03UnkcW9w1Xocoa0-lazKE0#head
http://rdf.disgenet.org/resource/nanopub/NP224896.RA0e5f98EvEw4T-3QgYrB_03UnkcW9w1Xocoa0-lazKE0
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP224896.RA0e5f98EvEw4T-3QgYrB_03UnkcW9w1Xocoa0-lazKE0#assertion
http://rdf.disgenet.org/resource/nanopub/NP224896.RA0e5f98EvEw4T-3QgYrB_03UnkcW9w1Xocoa0-lazKE0
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP224896.RA0e5f98EvEw4T-3QgYrB_03UnkcW9w1Xocoa0-lazKE0#provenance
http://rdf.disgenet.org/resource/nanopub/NP224896.RA0e5f98EvEw4T-3QgYrB_03UnkcW9w1Xocoa0-lazKE0
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP224896.RA0e5f98EvEw4T-3QgYrB_03UnkcW9w1Xocoa0-lazKE0#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP224896.RA0e5f98EvEw4T-3QgYrB_03UnkcW9w1Xocoa0-lazKE0
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP224896.RA0e5f98EvEw4T-3QgYrB_03UnkcW9w1Xocoa0-lazKE0#assertion
http://rdf.disgenet.org/resource/gda/DGNca8dffc3e46a0df8a048be8bc79d28e6
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/1277
http://rdf.disgenet.org/resource/gda/DGNca8dffc3e46a0df8a048be8bc79d28e6
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0023931
http://rdf.disgenet.org/resource/gda/DGNca8dffc3e46a0df8a048be8bc79d28e6
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP224896.RA0e5f98EvEw4T-3QgYrB_03UnkcW9w1Xocoa0-lazKE0#provenance
http://rdf.disgenet.org/resource/nanopub/NP224896.RA0e5f98EvEw4T-3QgYrB_03UnkcW9w1Xocoa0-lazKE0#assertion
http://purl.org/dc/terms/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.
http://rdf.disgenet.org/resource/nanopub/NP224896.RA0e5f98EvEw4T-3QgYrB_03UnkcW9w1Xocoa0-lazKE0#assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated
http://rdf.disgenet.org/resource/nanopub/NP224896.RA0e5f98EvEw4T-3QgYrB_03UnkcW9w1Xocoa0-lazKE0#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/1718984
http://rdf.disgenet.org/resource/nanopub/NP224896.RA0e5f98EvEw4T-3QgYrB_03UnkcW9w1Xocoa0-lazKE0#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/UNIPROT
http://rdf.disgenet.org/resource/nanopub/NP224896.RA0e5f98EvEw4T-3QgYrB_03UnkcW9w1Xocoa0-lazKE0#assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000218
http://rdf.disgenet.org/v5.0.0/void/UNIPROT
http://purl.org/pav/importedOn
2017-01-25
http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.obolibrary.org/obo/ECO_0000205
http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated
http://www.w3.org/2000/01/rdf-schema#comment
Gene-disease associations manually curated.
http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - CURATED
http://rdf.disgenet.org/resource/nanopub/NP224896.RA0e5f98EvEw4T-3QgYrB_03UnkcW9w1Xocoa0-lazKE0#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP224896.RA0e5f98EvEw4T-3QgYrB_03UnkcW9w1Xocoa0-lazKE0
http://purl.org/dc/terms/created
2017-10-17T13:11:38+02:00
http://rdf.disgenet.org/resource/nanopub/NP224896.RA0e5f98EvEw4T-3QgYrB_03UnkcW9w1Xocoa0-lazKE0
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP224896.RA0e5f98EvEw4T-3QgYrB_03UnkcW9w1Xocoa0-lazKE0
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP224896.RA0e5f98EvEw4T-3QgYrB_03UnkcW9w1Xocoa0-lazKE0
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP224896.RA0e5f98EvEw4T-3QgYrB_03UnkcW9w1Xocoa0-lazKE0
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP224896.RA0e5f98EvEw4T-3QgYrB_03UnkcW9w1Xocoa0-lazKE0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP224896.RA0e5f98EvEw4T-3QgYrB_03UnkcW9w1Xocoa0-lazKE0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP224896.RA0e5f98EvEw4T-3QgYrB_03UnkcW9w1Xocoa0-lazKE0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP224896.RA0e5f98EvEw4T-3QgYrB_03UnkcW9w1Xocoa0-lazKE0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP224896.RA0e5f98EvEw4T-3QgYrB_03UnkcW9w1Xocoa0-lazKE0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP224896.RA0e5f98EvEw4T-3QgYrB_03UnkcW9w1Xocoa0-lazKE0
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP224896.RA0e5f98EvEw4T-3QgYrB_03UnkcW9w1Xocoa0-lazKE0
http://purl.org/pav/version
v5.0.0.0
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v5.0.0