http://rdf.disgenet.org/resource/nanopub/NP707416.RANbtDF03RoNFFBQdtcdbrxl2e_k1kddRZ5cNfQrOAxQo130_head http://rdf.disgenet.org/resource/nanopub/NP707416.RANbtDF03RoNFFBQdtcdbrxl2e_k1kddRZ5cNfQrOAxQo http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP707416.RANbtDF03RoNFFBQdtcdbrxl2e_k1kddRZ5cNfQrOAxQo130_assertion http://rdf.disgenet.org/resource/nanopub/NP707416.RANbtDF03RoNFFBQdtcdbrxl2e_k1kddRZ5cNfQrOAxQo http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP707416.RANbtDF03RoNFFBQdtcdbrxl2e_k1kddRZ5cNfQrOAxQo130_provenance http://rdf.disgenet.org/resource/nanopub/NP707416.RANbtDF03RoNFFBQdtcdbrxl2e_k1kddRZ5cNfQrOAxQo http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP707416.RANbtDF03RoNFFBQdtcdbrxl2e_k1kddRZ5cNfQrOAxQo130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP707416.RANbtDF03RoNFFBQdtcdbrxl2e_k1kddRZ5cNfQrOAxQo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP707416.RANbtDF03RoNFFBQdtcdbrxl2e_k1kddRZ5cNfQrOAxQo130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP707416.RANbtDF03RoNFFBQdtcdbrxl2e_k1kddRZ5cNfQrOAxQo130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP707416.RANbtDF03RoNFFBQdtcdbrxl2e_k1kddRZ5cNfQrOAxQo130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP707416.RANbtDF03RoNFFBQdtcdbrxl2e_k1kddRZ5cNfQrOAxQo130_assertion http://identifiers.org/ncbigene/1278 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0029434 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGN06b4297f7d7ebbc3bcd3a268b602494f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1278 http://rdf.disgenet.org/resource/gda/DGN06b4297f7d7ebbc3bcd3a268b602494f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0029434 http://rdf.disgenet.org/resource/gda/DGN06b4297f7d7ebbc3bcd3a268b602494f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP707416.RANbtDF03RoNFFBQdtcdbrxl2e_k1kddRZ5cNfQrOAxQo130_provenance http://rdf.disgenet.org/resource/nanopub/NP707416.RANbtDF03RoNFFBQdtcdbrxl2e_k1kddRZ5cNfQrOAxQo130_assertion http://purl.org/dc/terms/description [Amplified cDNAs prepared from lymphoblastoid cells were used to identify previously characterized heterozygous mutations in the COL1A1 and COL1A2 genes from two patients with osteogenesis imperfecta and in the COL3A1 gene from a patient with the Ehlers-Danlos syndrome type IV.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP707416.RANbtDF03RoNFFBQdtcdbrxl2e_k1kddRZ5cNfQrOAxQo130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP707416.RANbtDF03RoNFFBQdtcdbrxl2e_k1kddRZ5cNfQrOAxQo130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/1905723 http://rdf.disgenet.org/resource/nanopub/NP707416.RANbtDF03RoNFFBQdtcdbrxl2e_k1kddRZ5cNfQrOAxQo130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP707416.RANbtDF03RoNFFBQdtcdbrxl2e_k1kddRZ5cNfQrOAxQo130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP707416.RANbtDF03RoNFFBQdtcdbrxl2e_k1kddRZ5cNfQrOAxQo130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP707416.RANbtDF03RoNFFBQdtcdbrxl2e_k1kddRZ5cNfQrOAxQo http://purl.org/dc/terms/created 2016-05-13T12:47:05+02:00 http://rdf.disgenet.org/resource/nanopub/NP707416.RANbtDF03RoNFFBQdtcdbrxl2e_k1kddRZ5cNfQrOAxQo http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP707416.RANbtDF03RoNFFBQdtcdbrxl2e_k1kddRZ5cNfQrOAxQo http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP707416.RANbtDF03RoNFFBQdtcdbrxl2e_k1kddRZ5cNfQrOAxQo http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP707416.RANbtDF03RoNFFBQdtcdbrxl2e_k1kddRZ5cNfQrOAxQo http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP707416.RANbtDF03RoNFFBQdtcdbrxl2e_k1kddRZ5cNfQrOAxQo http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP707416.RANbtDF03RoNFFBQdtcdbrxl2e_k1kddRZ5cNfQrOAxQo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP707416.RANbtDF03RoNFFBQdtcdbrxl2e_k1kddRZ5cNfQrOAxQo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP707416.RANbtDF03RoNFFBQdtcdbrxl2e_k1kddRZ5cNfQrOAxQo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP707416.RANbtDF03RoNFFBQdtcdbrxl2e_k1kddRZ5cNfQrOAxQo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP707416.RANbtDF03RoNFFBQdtcdbrxl2e_k1kddRZ5cNfQrOAxQo http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP707416.RANbtDF03RoNFFBQdtcdbrxl2e_k1kddRZ5cNfQrOAxQo http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0