http://rdf.disgenet.org/resource/nanopub/NP973378.RAQb1LNJpBccj3ChjXpk_IDvbsYOFb5aXGrdL5tIfil48#head http://rdf.disgenet.org/resource/nanopub/NP973378.RAQb1LNJpBccj3ChjXpk_IDvbsYOFb5aXGrdL5tIfil48 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP973378.RAQb1LNJpBccj3ChjXpk_IDvbsYOFb5aXGrdL5tIfil48#assertion http://rdf.disgenet.org/resource/nanopub/NP973378.RAQb1LNJpBccj3ChjXpk_IDvbsYOFb5aXGrdL5tIfil48 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP973378.RAQb1LNJpBccj3ChjXpk_IDvbsYOFb5aXGrdL5tIfil48#provenance http://rdf.disgenet.org/resource/nanopub/NP973378.RAQb1LNJpBccj3ChjXpk_IDvbsYOFb5aXGrdL5tIfil48 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP973378.RAQb1LNJpBccj3ChjXpk_IDvbsYOFb5aXGrdL5tIfil48#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP973378.RAQb1LNJpBccj3ChjXpk_IDvbsYOFb5aXGrdL5tIfil48 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP973378.RAQb1LNJpBccj3ChjXpk_IDvbsYOFb5aXGrdL5tIfil48#assertion http://rdf.disgenet.org/resource/gda/DGN71c50085454c45b51f2e3a42345b7e04 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6662 http://rdf.disgenet.org/resource/gda/DGN71c50085454c45b51f2e3a42345b7e04 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0000768 http://rdf.disgenet.org/resource/gda/DGN71c50085454c45b51f2e3a42345b7e04 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP973378.RAQb1LNJpBccj3ChjXpk_IDvbsYOFb5aXGrdL5tIfil48#provenance http://rdf.disgenet.org/resource/nanopub/NP973378.RAQb1LNJpBccj3ChjXpk_IDvbsYOFb5aXGrdL5tIfil48#assertion http://purl.org/dc/terms/description [Finally, none of 18 female patients with XY gonadal dysgenesis (Swyer syndrome) showed an altered SOX9 banding pattern in SSCP assays, providing evidence that SOX9 mutations do not usually result in XY sex reversal without skeletal malformations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP973378.RAQb1LNJpBccj3ChjXpk_IDvbsYOFb5aXGrdL5tIfil48#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/NP973378.RAQb1LNJpBccj3ChjXpk_IDvbsYOFb5aXGrdL5tIfil48#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9002675 http://rdf.disgenet.org/resource/nanopub/NP973378.RAQb1LNJpBccj3ChjXpk_IDvbsYOFb5aXGrdL5tIfil48#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP973378.RAQb1LNJpBccj3ChjXpk_IDvbsYOFb5aXGrdL5tIfil48#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/NP973378.RAQb1LNJpBccj3ChjXpk_IDvbsYOFb5aXGrdL5tIfil48#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP973378.RAQb1LNJpBccj3ChjXpk_IDvbsYOFb5aXGrdL5tIfil48 http://purl.org/dc/terms/created 2017-10-17T13:16:23+02:00 http://rdf.disgenet.org/resource/nanopub/NP973378.RAQb1LNJpBccj3ChjXpk_IDvbsYOFb5aXGrdL5tIfil48 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP973378.RAQb1LNJpBccj3ChjXpk_IDvbsYOFb5aXGrdL5tIfil48 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP973378.RAQb1LNJpBccj3ChjXpk_IDvbsYOFb5aXGrdL5tIfil48 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP973378.RAQb1LNJpBccj3ChjXpk_IDvbsYOFb5aXGrdL5tIfil48 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP973378.RAQb1LNJpBccj3ChjXpk_IDvbsYOFb5aXGrdL5tIfil48 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP973378.RAQb1LNJpBccj3ChjXpk_IDvbsYOFb5aXGrdL5tIfil48 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP973378.RAQb1LNJpBccj3ChjXpk_IDvbsYOFb5aXGrdL5tIfil48 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP973378.RAQb1LNJpBccj3ChjXpk_IDvbsYOFb5aXGrdL5tIfil48 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP973378.RAQb1LNJpBccj3ChjXpk_IDvbsYOFb5aXGrdL5tIfil48 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP973378.RAQb1LNJpBccj3ChjXpk_IDvbsYOFb5aXGrdL5tIfil48 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP973378.RAQb1LNJpBccj3ChjXpk_IDvbsYOFb5aXGrdL5tIfil48 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