http://rdf.disgenet.org/resource/nanopub/NP225911.RAjYCqnm5xeK5YSMeKFszbE6dL9wwFIGIwr3BWRaPTdMw#head
http://rdf.disgenet.org/resource/nanopub/NP225911.RAjYCqnm5xeK5YSMeKFszbE6dL9wwFIGIwr3BWRaPTdMw
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP225911.RAjYCqnm5xeK5YSMeKFszbE6dL9wwFIGIwr3BWRaPTdMw#assertion
http://rdf.disgenet.org/resource/nanopub/NP225911.RAjYCqnm5xeK5YSMeKFszbE6dL9wwFIGIwr3BWRaPTdMw
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP225911.RAjYCqnm5xeK5YSMeKFszbE6dL9wwFIGIwr3BWRaPTdMw#provenance
http://rdf.disgenet.org/resource/nanopub/NP225911.RAjYCqnm5xeK5YSMeKFszbE6dL9wwFIGIwr3BWRaPTdMw
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP225911.RAjYCqnm5xeK5YSMeKFszbE6dL9wwFIGIwr3BWRaPTdMw#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP225911.RAjYCqnm5xeK5YSMeKFszbE6dL9wwFIGIwr3BWRaPTdMw
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP225911.RAjYCqnm5xeK5YSMeKFszbE6dL9wwFIGIwr3BWRaPTdMw#assertion
http://rdf.disgenet.org/resource/gda/DGN188cdb88015a1222335664c1bb96e934
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/1278
http://rdf.disgenet.org/resource/gda/DGN188cdb88015a1222335664c1bb96e934
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0029434
http://rdf.disgenet.org/resource/gda/DGN188cdb88015a1222335664c1bb96e934
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP225911.RAjYCqnm5xeK5YSMeKFszbE6dL9wwFIGIwr3BWRaPTdMw#provenance
http://rdf.disgenet.org/resource/nanopub/NP225911.RAjYCqnm5xeK5YSMeKFszbE6dL9wwFIGIwr3BWRaPTdMw#assertion
http://purl.org/dc/terms/description
[To better understand the relationships between genotype, mRNA splicing, and phenotype, we examined clinical and molecular data from 243 probands with osteogenesis imperfecta (OI) representing 145 unique splicing variants within the type I procollagen gene, COL1A1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP225911.RAjYCqnm5xeK5YSMeKFszbE6dL9wwFIGIwr3BWRaPTdMw#assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP225911.RAjYCqnm5xeK5YSMeKFszbE6dL9wwFIGIwr3BWRaPTdMw#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/25963598
http://rdf.disgenet.org/resource/nanopub/NP225911.RAjYCqnm5xeK5YSMeKFszbE6dL9wwFIGIwr3BWRaPTdMw#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP225911.RAjYCqnm5xeK5YSMeKFszbE6dL9wwFIGIwr3BWRaPTdMw#assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://purl.org/pav/importedOn
2017-02-19
http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.obolibrary.org/obo/ECO_0000212
http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#comment
Gene-disease associations inferred from text-mining the literature.
http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP225911.RAjYCqnm5xeK5YSMeKFszbE6dL9wwFIGIwr3BWRaPTdMw#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP225911.RAjYCqnm5xeK5YSMeKFszbE6dL9wwFIGIwr3BWRaPTdMw
http://purl.org/dc/terms/created
2017-10-17T13:11:38+02:00
http://rdf.disgenet.org/resource/nanopub/NP225911.RAjYCqnm5xeK5YSMeKFszbE6dL9wwFIGIwr3BWRaPTdMw
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP225911.RAjYCqnm5xeK5YSMeKFszbE6dL9wwFIGIwr3BWRaPTdMw
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP225911.RAjYCqnm5xeK5YSMeKFszbE6dL9wwFIGIwr3BWRaPTdMw
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP225911.RAjYCqnm5xeK5YSMeKFszbE6dL9wwFIGIwr3BWRaPTdMw
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP225911.RAjYCqnm5xeK5YSMeKFszbE6dL9wwFIGIwr3BWRaPTdMw
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP225911.RAjYCqnm5xeK5YSMeKFszbE6dL9wwFIGIwr3BWRaPTdMw
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP225911.RAjYCqnm5xeK5YSMeKFszbE6dL9wwFIGIwr3BWRaPTdMw
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP225911.RAjYCqnm5xeK5YSMeKFszbE6dL9wwFIGIwr3BWRaPTdMw
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP225911.RAjYCqnm5xeK5YSMeKFszbE6dL9wwFIGIwr3BWRaPTdMw
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP225911.RAjYCqnm5xeK5YSMeKFszbE6dL9wwFIGIwr3BWRaPTdMw
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP225911.RAjYCqnm5xeK5YSMeKFszbE6dL9wwFIGIwr3BWRaPTdMw
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