http://rdf.disgenet.org/resource/nanopub/NP973250.RAGjLBEGJmC5KWY0rCtao8Wc5p__LX1G9FeGHSLb9iYuU#head http://rdf.disgenet.org/resource/nanopub/NP973250.RAGjLBEGJmC5KWY0rCtao8Wc5p__LX1G9FeGHSLb9iYuU http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP973250.RAGjLBEGJmC5KWY0rCtao8Wc5p__LX1G9FeGHSLb9iYuU#assertion http://rdf.disgenet.org/resource/nanopub/NP973250.RAGjLBEGJmC5KWY0rCtao8Wc5p__LX1G9FeGHSLb9iYuU http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP973250.RAGjLBEGJmC5KWY0rCtao8Wc5p__LX1G9FeGHSLb9iYuU#provenance http://rdf.disgenet.org/resource/nanopub/NP973250.RAGjLBEGJmC5KWY0rCtao8Wc5p__LX1G9FeGHSLb9iYuU http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP973250.RAGjLBEGJmC5KWY0rCtao8Wc5p__LX1G9FeGHSLb9iYuU#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP973250.RAGjLBEGJmC5KWY0rCtao8Wc5p__LX1G9FeGHSLb9iYuU http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP973250.RAGjLBEGJmC5KWY0rCtao8Wc5p__LX1G9FeGHSLb9iYuU#assertion http://rdf.disgenet.org/resource/gda/DGN47cca5518b7089412773628c22eef352 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6662 http://rdf.disgenet.org/resource/gda/DGN47cca5518b7089412773628c22eef352 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0041408 http://rdf.disgenet.org/resource/gda/DGN47cca5518b7089412773628c22eef352 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP973250.RAGjLBEGJmC5KWY0rCtao8Wc5p__LX1G9FeGHSLb9iYuU#provenance http://rdf.disgenet.org/resource/nanopub/NP973250.RAGjLBEGJmC5KWY0rCtao8Wc5p__LX1G9FeGHSLb9iYuU#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/NP973250.RAGjLBEGJmC5KWY0rCtao8Wc5p__LX1G9FeGHSLb9iYuU#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/NP973250.RAGjLBEGJmC5KWY0rCtao8Wc5p__LX1G9FeGHSLb9iYuU#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9002675 http://rdf.disgenet.org/resource/nanopub/NP973250.RAGjLBEGJmC5KWY0rCtao8Wc5p__LX1G9FeGHSLb9iYuU#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP973250.RAGjLBEGJmC5KWY0rCtao8Wc5p__LX1G9FeGHSLb9iYuU#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/NP973250.RAGjLBEGJmC5KWY0rCtao8Wc5p__LX1G9FeGHSLb9iYuU#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP973250.RAGjLBEGJmC5KWY0rCtao8Wc5p__LX1G9FeGHSLb9iYuU http://purl.org/dc/terms/created 2017-10-17T13:16:23+02:00 http://rdf.disgenet.org/resource/nanopub/NP973250.RAGjLBEGJmC5KWY0rCtao8Wc5p__LX1G9FeGHSLb9iYuU http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP973250.RAGjLBEGJmC5KWY0rCtao8Wc5p__LX1G9FeGHSLb9iYuU http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP973250.RAGjLBEGJmC5KWY0rCtao8Wc5p__LX1G9FeGHSLb9iYuU http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP973250.RAGjLBEGJmC5KWY0rCtao8Wc5p__LX1G9FeGHSLb9iYuU http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP973250.RAGjLBEGJmC5KWY0rCtao8Wc5p__LX1G9FeGHSLb9iYuU http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP973250.RAGjLBEGJmC5KWY0rCtao8Wc5p__LX1G9FeGHSLb9iYuU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP973250.RAGjLBEGJmC5KWY0rCtao8Wc5p__LX1G9FeGHSLb9iYuU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP973250.RAGjLBEGJmC5KWY0rCtao8Wc5p__LX1G9FeGHSLb9iYuU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP973250.RAGjLBEGJmC5KWY0rCtao8Wc5p__LX1G9FeGHSLb9iYuU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP973250.RAGjLBEGJmC5KWY0rCtao8Wc5p__LX1G9FeGHSLb9iYuU http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP973250.RAGjLBEGJmC5KWY0rCtao8Wc5p__LX1G9FeGHSLb9iYuU 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