http://rdf.disgenet.org/resource/nanopub/NP265279.RAwwRPhhtkNn1U8dwL-Le5LJVJ31BHpkJj0AxITldP3Es130_head http://rdf.disgenet.org/resource/nanopub/NP265279.RAwwRPhhtkNn1U8dwL-Le5LJVJ31BHpkJj0AxITldP3Es http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP265279.RAwwRPhhtkNn1U8dwL-Le5LJVJ31BHpkJj0AxITldP3Es130_assertion http://rdf.disgenet.org/resource/nanopub/NP265279.RAwwRPhhtkNn1U8dwL-Le5LJVJ31BHpkJj0AxITldP3Es http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP265279.RAwwRPhhtkNn1U8dwL-Le5LJVJ31BHpkJj0AxITldP3Es130_provenance http://rdf.disgenet.org/resource/nanopub/NP265279.RAwwRPhhtkNn1U8dwL-Le5LJVJ31BHpkJj0AxITldP3Es http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP265279.RAwwRPhhtkNn1U8dwL-Le5LJVJ31BHpkJj0AxITldP3Es130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP265279.RAwwRPhhtkNn1U8dwL-Le5LJVJ31BHpkJj0AxITldP3Es http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP265279.RAwwRPhhtkNn1U8dwL-Le5LJVJ31BHpkJj0AxITldP3Es130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP265279.RAwwRPhhtkNn1U8dwL-Le5LJVJ31BHpkJj0AxITldP3Es130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP265279.RAwwRPhhtkNn1U8dwL-Le5LJVJ31BHpkJj0AxITldP3Es130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP265279.RAwwRPhhtkNn1U8dwL-Le5LJVJ31BHpkJj0AxITldP3Es130_assertion http://identifiers.org/ncbigene/5443 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/C0001627 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/DGNd7933efb266a2f60c10f01259bfbc005 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5443 http://rdf.disgenet.org/resource/gda/DGNd7933efb266a2f60c10f01259bfbc005 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0001627 http://rdf.disgenet.org/resource/gda/DGNd7933efb266a2f60c10f01259bfbc005 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP265279.RAwwRPhhtkNn1U8dwL-Le5LJVJ31BHpkJj0AxITldP3Es130_provenance http://rdf.disgenet.org/resource/nanopub/NP265279.RAwwRPhhtkNn1U8dwL-Le5LJVJ31BHpkJj0AxITldP3Es130_assertion http://purl.org/dc/terms/description [Four patients (three with idiopathic hirsutism, one with ovarian hyperandrogenism) and one control were carriers of CYP21 mutations typically associated with classic congenital adrenal hyperplasia but had normal basal and ACTH-stimulated 17-hydroxyprogesterone levels.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP265279.RAwwRPhhtkNn1U8dwL-Le5LJVJ31BHpkJj0AxITldP3Es130_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/NP265279.RAwwRPhhtkNn1U8dwL-Le5LJVJ31BHpkJj0AxITldP3Es130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10521100 http://rdf.disgenet.org/resource/nanopub/NP265279.RAwwRPhhtkNn1U8dwL-Le5LJVJ31BHpkJj0AxITldP3Es130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP265279.RAwwRPhhtkNn1U8dwL-Le5LJVJ31BHpkJj0AxITldP3Es130_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/NP265279.RAwwRPhhtkNn1U8dwL-Le5LJVJ31BHpkJj0AxITldP3Es130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP265279.RAwwRPhhtkNn1U8dwL-Le5LJVJ31BHpkJj0AxITldP3Es http://purl.org/dc/terms/created 2016-05-13T12:43:46+02:00 http://rdf.disgenet.org/resource/nanopub/NP265279.RAwwRPhhtkNn1U8dwL-Le5LJVJ31BHpkJj0AxITldP3Es http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP265279.RAwwRPhhtkNn1U8dwL-Le5LJVJ31BHpkJj0AxITldP3Es http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP265279.RAwwRPhhtkNn1U8dwL-Le5LJVJ31BHpkJj0AxITldP3Es http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP265279.RAwwRPhhtkNn1U8dwL-Le5LJVJ31BHpkJj0AxITldP3Es http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP265279.RAwwRPhhtkNn1U8dwL-Le5LJVJ31BHpkJj0AxITldP3Es http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP265279.RAwwRPhhtkNn1U8dwL-Le5LJVJ31BHpkJj0AxITldP3Es http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP265279.RAwwRPhhtkNn1U8dwL-Le5LJVJ31BHpkJj0AxITldP3Es http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP265279.RAwwRPhhtkNn1U8dwL-Le5LJVJ31BHpkJj0AxITldP3Es http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP265279.RAwwRPhhtkNn1U8dwL-Le5LJVJ31BHpkJj0AxITldP3Es http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP265279.RAwwRPhhtkNn1U8dwL-Le5LJVJ31BHpkJj0AxITldP3Es http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP265279.RAwwRPhhtkNn1U8dwL-Le5LJVJ31BHpkJj0AxITldP3Es 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