http://rdf.disgenet.org/resource/nanopub/NP272885.RARIAG1TDxNJCQMO6pfR5Xk9Mm1X-elihKBTI0uoqA5Ts#head http://rdf.disgenet.org/resource/nanopub/NP272885.RARIAG1TDxNJCQMO6pfR5Xk9Mm1X-elihKBTI0uoqA5Ts http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP272885.RARIAG1TDxNJCQMO6pfR5Xk9Mm1X-elihKBTI0uoqA5Ts#assertion http://rdf.disgenet.org/resource/nanopub/NP272885.RARIAG1TDxNJCQMO6pfR5Xk9Mm1X-elihKBTI0uoqA5Ts http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP272885.RARIAG1TDxNJCQMO6pfR5Xk9Mm1X-elihKBTI0uoqA5Ts#provenance http://rdf.disgenet.org/resource/nanopub/NP272885.RARIAG1TDxNJCQMO6pfR5Xk9Mm1X-elihKBTI0uoqA5Ts http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP272885.RARIAG1TDxNJCQMO6pfR5Xk9Mm1X-elihKBTI0uoqA5Ts#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP272885.RARIAG1TDxNJCQMO6pfR5Xk9Mm1X-elihKBTI0uoqA5Ts http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP272885.RARIAG1TDxNJCQMO6pfR5Xk9Mm1X-elihKBTI0uoqA5Ts#assertion http://rdf.disgenet.org/resource/gda/DGNa2cdad2a1d95a48e9e4956bbddb09cdb http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1589 http://rdf.disgenet.org/resource/gda/DGNa2cdad2a1d95a48e9e4956bbddb09cdb http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0001627 http://rdf.disgenet.org/resource/gda/DGNa2cdad2a1d95a48e9e4956bbddb09cdb http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP272885.RARIAG1TDxNJCQMO6pfR5Xk9Mm1X-elihKBTI0uoqA5Ts#provenance http://rdf.disgenet.org/resource/nanopub/NP272885.RARIAG1TDxNJCQMO6pfR5Xk9Mm1X-elihKBTI0uoqA5Ts#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/NP272885.RARIAG1TDxNJCQMO6pfR5Xk9Mm1X-elihKBTI0uoqA5Ts#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/NP272885.RARIAG1TDxNJCQMO6pfR5Xk9Mm1X-elihKBTI0uoqA5Ts#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10521100 http://rdf.disgenet.org/resource/nanopub/NP272885.RARIAG1TDxNJCQMO6pfR5Xk9Mm1X-elihKBTI0uoqA5Ts#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP272885.RARIAG1TDxNJCQMO6pfR5Xk9Mm1X-elihKBTI0uoqA5Ts#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/NP272885.RARIAG1TDxNJCQMO6pfR5Xk9Mm1X-elihKBTI0uoqA5Ts#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP272885.RARIAG1TDxNJCQMO6pfR5Xk9Mm1X-elihKBTI0uoqA5Ts http://purl.org/dc/terms/created 2017-10-17T13:11:55+02:00 http://rdf.disgenet.org/resource/nanopub/NP272885.RARIAG1TDxNJCQMO6pfR5Xk9Mm1X-elihKBTI0uoqA5Ts http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP272885.RARIAG1TDxNJCQMO6pfR5Xk9Mm1X-elihKBTI0uoqA5Ts http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP272885.RARIAG1TDxNJCQMO6pfR5Xk9Mm1X-elihKBTI0uoqA5Ts http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP272885.RARIAG1TDxNJCQMO6pfR5Xk9Mm1X-elihKBTI0uoqA5Ts http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP272885.RARIAG1TDxNJCQMO6pfR5Xk9Mm1X-elihKBTI0uoqA5Ts http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP272885.RARIAG1TDxNJCQMO6pfR5Xk9Mm1X-elihKBTI0uoqA5Ts http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP272885.RARIAG1TDxNJCQMO6pfR5Xk9Mm1X-elihKBTI0uoqA5Ts http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP272885.RARIAG1TDxNJCQMO6pfR5Xk9Mm1X-elihKBTI0uoqA5Ts http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP272885.RARIAG1TDxNJCQMO6pfR5Xk9Mm1X-elihKBTI0uoqA5Ts http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP272885.RARIAG1TDxNJCQMO6pfR5Xk9Mm1X-elihKBTI0uoqA5Ts http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP272885.RARIAG1TDxNJCQMO6pfR5Xk9Mm1X-elihKBTI0uoqA5Ts 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