http://rdf.disgenet.org/resource/nanopub/NP80572.RAeN6TOdFHJKpjWPKGJtsm88ogKZ5DNLSQJt-AtQ5Iy_8#head http://rdf.disgenet.org/resource/nanopub/NP80572.RAeN6TOdFHJKpjWPKGJtsm88ogKZ5DNLSQJt-AtQ5Iy_8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP80572.RAeN6TOdFHJKpjWPKGJtsm88ogKZ5DNLSQJt-AtQ5Iy_8#assertion http://rdf.disgenet.org/resource/nanopub/NP80572.RAeN6TOdFHJKpjWPKGJtsm88ogKZ5DNLSQJt-AtQ5Iy_8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP80572.RAeN6TOdFHJKpjWPKGJtsm88ogKZ5DNLSQJt-AtQ5Iy_8#provenance http://rdf.disgenet.org/resource/nanopub/NP80572.RAeN6TOdFHJKpjWPKGJtsm88ogKZ5DNLSQJt-AtQ5Iy_8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP80572.RAeN6TOdFHJKpjWPKGJtsm88ogKZ5DNLSQJt-AtQ5Iy_8#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP80572.RAeN6TOdFHJKpjWPKGJtsm88ogKZ5DNLSQJt-AtQ5Iy_8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP80572.RAeN6TOdFHJKpjWPKGJtsm88ogKZ5DNLSQJt-AtQ5Iy_8#assertion http://rdf.disgenet.org/resource/gda/DGN2105ec3b3f7550460eea1cc8809d9ed4 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/367 http://rdf.disgenet.org/resource/gda/DGN2105ec3b3f7550460eea1cc8809d9ed4 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0158687 http://rdf.disgenet.org/resource/gda/DGN2105ec3b3f7550460eea1cc8809d9ed4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP80572.RAeN6TOdFHJKpjWPKGJtsm88ogKZ5DNLSQJt-AtQ5Iy_8#provenance http://rdf.disgenet.org/resource/nanopub/NP80572.RAeN6TOdFHJKpjWPKGJtsm88ogKZ5DNLSQJt-AtQ5Iy_8#assertion http://purl.org/dc/terms/description [We conclude that AR gene mutations or polymorphisms are not a common factor influencing the degree of hyperandrogenic symptoms displayed by CAH girls, and that the AR E653K mutation is compatible with normal genital development, although it can cause genital malformations in susceptible individuals.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP80572.RAeN6TOdFHJKpjWPKGJtsm88ogKZ5DNLSQJt-AtQ5Iy_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/NP80572.RAeN6TOdFHJKpjWPKGJtsm88ogKZ5DNLSQJt-AtQ5Iy_8#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12050225 http://rdf.disgenet.org/resource/nanopub/NP80572.RAeN6TOdFHJKpjWPKGJtsm88ogKZ5DNLSQJt-AtQ5Iy_8#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP80572.RAeN6TOdFHJKpjWPKGJtsm88ogKZ5DNLSQJt-AtQ5Iy_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/NP80572.RAeN6TOdFHJKpjWPKGJtsm88ogKZ5DNLSQJt-AtQ5Iy_8#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP80572.RAeN6TOdFHJKpjWPKGJtsm88ogKZ5DNLSQJt-AtQ5Iy_8 http://purl.org/dc/terms/created 2017-10-17T13:10:42+02:00 http://rdf.disgenet.org/resource/nanopub/NP80572.RAeN6TOdFHJKpjWPKGJtsm88ogKZ5DNLSQJt-AtQ5Iy_8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP80572.RAeN6TOdFHJKpjWPKGJtsm88ogKZ5DNLSQJt-AtQ5Iy_8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP80572.RAeN6TOdFHJKpjWPKGJtsm88ogKZ5DNLSQJt-AtQ5Iy_8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP80572.RAeN6TOdFHJKpjWPKGJtsm88ogKZ5DNLSQJt-AtQ5Iy_8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP80572.RAeN6TOdFHJKpjWPKGJtsm88ogKZ5DNLSQJt-AtQ5Iy_8 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP80572.RAeN6TOdFHJKpjWPKGJtsm88ogKZ5DNLSQJt-AtQ5Iy_8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP80572.RAeN6TOdFHJKpjWPKGJtsm88ogKZ5DNLSQJt-AtQ5Iy_8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP80572.RAeN6TOdFHJKpjWPKGJtsm88ogKZ5DNLSQJt-AtQ5Iy_8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP80572.RAeN6TOdFHJKpjWPKGJtsm88ogKZ5DNLSQJt-AtQ5Iy_8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP80572.RAeN6TOdFHJKpjWPKGJtsm88ogKZ5DNLSQJt-AtQ5Iy_8 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP80572.RAeN6TOdFHJKpjWPKGJtsm88ogKZ5DNLSQJt-AtQ5Iy_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