http://rdf.disgenet.org/resource/nanopub/NP225412.RAHe4uptnDDkWOwzFJiBB5_DyNLn6-KaMTDaxY76isg_8#head http://rdf.disgenet.org/resource/nanopub/NP225412.RAHe4uptnDDkWOwzFJiBB5_DyNLn6-KaMTDaxY76isg_8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP225412.RAHe4uptnDDkWOwzFJiBB5_DyNLn6-KaMTDaxY76isg_8#assertion http://rdf.disgenet.org/resource/nanopub/NP225412.RAHe4uptnDDkWOwzFJiBB5_DyNLn6-KaMTDaxY76isg_8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP225412.RAHe4uptnDDkWOwzFJiBB5_DyNLn6-KaMTDaxY76isg_8#provenance http://rdf.disgenet.org/resource/nanopub/NP225412.RAHe4uptnDDkWOwzFJiBB5_DyNLn6-KaMTDaxY76isg_8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP225412.RAHe4uptnDDkWOwzFJiBB5_DyNLn6-KaMTDaxY76isg_8#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP225412.RAHe4uptnDDkWOwzFJiBB5_DyNLn6-KaMTDaxY76isg_8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP225412.RAHe4uptnDDkWOwzFJiBB5_DyNLn6-KaMTDaxY76isg_8#assertion http://rdf.disgenet.org/resource/gda/DGN72516204ebff1ffeef90275fc119f8ec http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1277 http://rdf.disgenet.org/resource/gda/DGN72516204ebff1ffeef90275fc119f8ec http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0268338 http://rdf.disgenet.org/resource/gda/DGN72516204ebff1ffeef90275fc119f8ec http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP225412.RAHe4uptnDDkWOwzFJiBB5_DyNLn6-KaMTDaxY76isg_8#provenance http://rdf.disgenet.org/resource/nanopub/NP225412.RAHe4uptnDDkWOwzFJiBB5_DyNLn6-KaMTDaxY76isg_8#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/NP225412.RAHe4uptnDDkWOwzFJiBB5_DyNLn6-KaMTDaxY76isg_8#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/NP225412.RAHe4uptnDDkWOwzFJiBB5_DyNLn6-KaMTDaxY76isg_8#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/1905723 http://rdf.disgenet.org/resource/nanopub/NP225412.RAHe4uptnDDkWOwzFJiBB5_DyNLn6-KaMTDaxY76isg_8#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP225412.RAHe4uptnDDkWOwzFJiBB5_DyNLn6-KaMTDaxY76isg_8#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/NP225412.RAHe4uptnDDkWOwzFJiBB5_DyNLn6-KaMTDaxY76isg_8#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP225412.RAHe4uptnDDkWOwzFJiBB5_DyNLn6-KaMTDaxY76isg_8 http://purl.org/dc/terms/created 2017-10-17T13:11:38+02:00 http://rdf.disgenet.org/resource/nanopub/NP225412.RAHe4uptnDDkWOwzFJiBB5_DyNLn6-KaMTDaxY76isg_8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP225412.RAHe4uptnDDkWOwzFJiBB5_DyNLn6-KaMTDaxY76isg_8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP225412.RAHe4uptnDDkWOwzFJiBB5_DyNLn6-KaMTDaxY76isg_8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP225412.RAHe4uptnDDkWOwzFJiBB5_DyNLn6-KaMTDaxY76isg_8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP225412.RAHe4uptnDDkWOwzFJiBB5_DyNLn6-KaMTDaxY76isg_8 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP225412.RAHe4uptnDDkWOwzFJiBB5_DyNLn6-KaMTDaxY76isg_8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP225412.RAHe4uptnDDkWOwzFJiBB5_DyNLn6-KaMTDaxY76isg_8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP225412.RAHe4uptnDDkWOwzFJiBB5_DyNLn6-KaMTDaxY76isg_8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP225412.RAHe4uptnDDkWOwzFJiBB5_DyNLn6-KaMTDaxY76isg_8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP225412.RAHe4uptnDDkWOwzFJiBB5_DyNLn6-KaMTDaxY76isg_8 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP225412.RAHe4uptnDDkWOwzFJiBB5_DyNLn6-KaMTDaxY76isg_8 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