http://rdf.disgenet.org/resource/nanopub/NP707412.RAQNxvbapepTnShnLT0iy-3E6Axglz7UxKSNvyewerpq4130_head http://rdf.disgenet.org/resource/nanopub/NP707412.RAQNxvbapepTnShnLT0iy-3E6Axglz7UxKSNvyewerpq4 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP707412.RAQNxvbapepTnShnLT0iy-3E6Axglz7UxKSNvyewerpq4130_assertion http://rdf.disgenet.org/resource/nanopub/NP707412.RAQNxvbapepTnShnLT0iy-3E6Axglz7UxKSNvyewerpq4 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP707412.RAQNxvbapepTnShnLT0iy-3E6Axglz7UxKSNvyewerpq4130_provenance http://rdf.disgenet.org/resource/nanopub/NP707412.RAQNxvbapepTnShnLT0iy-3E6Axglz7UxKSNvyewerpq4 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP707412.RAQNxvbapepTnShnLT0iy-3E6Axglz7UxKSNvyewerpq4130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP707412.RAQNxvbapepTnShnLT0iy-3E6Axglz7UxKSNvyewerpq4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP707412.RAQNxvbapepTnShnLT0iy-3E6Axglz7UxKSNvyewerpq4130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP707412.RAQNxvbapepTnShnLT0iy-3E6Axglz7UxKSNvyewerpq4130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP707412.RAQNxvbapepTnShnLT0iy-3E6Axglz7UxKSNvyewerpq4130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP707412.RAQNxvbapepTnShnLT0iy-3E6Axglz7UxKSNvyewerpq4130_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/C0268338 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/DGNdfed1ceb462c04deb2d58066824a4977 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1278 http://rdf.disgenet.org/resource/gda/DGNdfed1ceb462c04deb2d58066824a4977 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0268338 http://rdf.disgenet.org/resource/gda/DGNdfed1ceb462c04deb2d58066824a4977 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP707412.RAQNxvbapepTnShnLT0iy-3E6Axglz7UxKSNvyewerpq4130_provenance http://rdf.disgenet.org/resource/nanopub/NP707412.RAQNxvbapepTnShnLT0iy-3E6Axglz7UxKSNvyewerpq4130_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/NP707412.RAQNxvbapepTnShnLT0iy-3E6Axglz7UxKSNvyewerpq4130_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/NP707412.RAQNxvbapepTnShnLT0iy-3E6Axglz7UxKSNvyewerpq4130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/1905723 http://rdf.disgenet.org/resource/nanopub/NP707412.RAQNxvbapepTnShnLT0iy-3E6Axglz7UxKSNvyewerpq4130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP707412.RAQNxvbapepTnShnLT0iy-3E6Axglz7UxKSNvyewerpq4130_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/NP707412.RAQNxvbapepTnShnLT0iy-3E6Axglz7UxKSNvyewerpq4130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP707412.RAQNxvbapepTnShnLT0iy-3E6Axglz7UxKSNvyewerpq4 http://purl.org/dc/terms/created 2016-05-13T12:47:05+02:00 http://rdf.disgenet.org/resource/nanopub/NP707412.RAQNxvbapepTnShnLT0iy-3E6Axglz7UxKSNvyewerpq4 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP707412.RAQNxvbapepTnShnLT0iy-3E6Axglz7UxKSNvyewerpq4 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP707412.RAQNxvbapepTnShnLT0iy-3E6Axglz7UxKSNvyewerpq4 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP707412.RAQNxvbapepTnShnLT0iy-3E6Axglz7UxKSNvyewerpq4 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP707412.RAQNxvbapepTnShnLT0iy-3E6Axglz7UxKSNvyewerpq4 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP707412.RAQNxvbapepTnShnLT0iy-3E6Axglz7UxKSNvyewerpq4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP707412.RAQNxvbapepTnShnLT0iy-3E6Axglz7UxKSNvyewerpq4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP707412.RAQNxvbapepTnShnLT0iy-3E6Axglz7UxKSNvyewerpq4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP707412.RAQNxvbapepTnShnLT0iy-3E6Axglz7UxKSNvyewerpq4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP707412.RAQNxvbapepTnShnLT0iy-3E6Axglz7UxKSNvyewerpq4 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP707412.RAQNxvbapepTnShnLT0iy-3E6Axglz7UxKSNvyewerpq4 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