http://rdf.disgenet.org/nanopublications.trig#NP372565.RAOXXnqziSGHhace8NTpIPZirK6JxQtu3rMjC-kA4zqG4130_head http://rdf.disgenet.org/nanopublications.trig#NP372565.RAOXXnqziSGHhace8NTpIPZirK6JxQtu3rMjC-kA4zqG4 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP372565.RAOXXnqziSGHhace8NTpIPZirK6JxQtu3rMjC-kA4zqG4130_assertion http://rdf.disgenet.org/nanopublications.trig#NP372565.RAOXXnqziSGHhace8NTpIPZirK6JxQtu3rMjC-kA4zqG4 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP372565.RAOXXnqziSGHhace8NTpIPZirK6JxQtu3rMjC-kA4zqG4130_provenance http://rdf.disgenet.org/nanopublications.trig#NP372565.RAOXXnqziSGHhace8NTpIPZirK6JxQtu3rMjC-kA4zqG4 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP372565.RAOXXnqziSGHhace8NTpIPZirK6JxQtu3rMjC-kA4zqG4130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP372565.RAOXXnqziSGHhace8NTpIPZirK6JxQtu3rMjC-kA4zqG4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP372565.RAOXXnqziSGHhace8NTpIPZirK6JxQtu3rMjC-kA4zqG4130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP372565.RAOXXnqziSGHhace8NTpIPZirK6JxQtu3rMjC-kA4zqG4130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP372565.RAOXXnqziSGHhace8NTpIPZirK6JxQtu3rMjC-kA4zqG4130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP372565.RAOXXnqziSGHhace8NTpIPZirK6JxQtu3rMjC-kA4zqG4130_assertion http://identifiers.org/ncbigene/6662 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/C0041408 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/gene-disease-association.ttl#DGNacab3a30cbd5ab47da3fee4f4075f9c6 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6662 http://rdf.disgenet.org/gene-disease-association.ttl#DGNacab3a30cbd5ab47da3fee4f4075f9c6 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0041408 http://rdf.disgenet.org/gene-disease-association.ttl#DGNacab3a30cbd5ab47da3fee4f4075f9c6 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP372565.RAOXXnqziSGHhace8NTpIPZirK6JxQtu3rMjC-kA4zqG4130_provenance http://rdf.disgenet.org/nanopublications.trig#NP372565.RAOXXnqziSGHhace8NTpIPZirK6JxQtu3rMjC-kA4zqG4130_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/nanopublications.trig#NP372565.RAOXXnqziSGHhace8NTpIPZirK6JxQtu3rMjC-kA4zqG4130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP372565.RAOXXnqziSGHhace8NTpIPZirK6JxQtu3rMjC-kA4zqG4130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9002675 http://rdf.disgenet.org/nanopublications.trig#NP372565.RAOXXnqziSGHhace8NTpIPZirK6JxQtu3rMjC-kA4zqG4130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP372565.RAOXXnqziSGHhace8NTpIPZirK6JxQtu3rMjC-kA4zqG4130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP372565.RAOXXnqziSGHhace8NTpIPZirK6JxQtu3rMjC-kA4zqG4130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP372565.RAOXXnqziSGHhace8NTpIPZirK6JxQtu3rMjC-kA4zqG4 http://purl.org/dc/terms/created 2014-10-02T12:35:38+02:00 http://rdf.disgenet.org/nanopublications.trig#NP372565.RAOXXnqziSGHhace8NTpIPZirK6JxQtu3rMjC-kA4zqG4 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP372565.RAOXXnqziSGHhace8NTpIPZirK6JxQtu3rMjC-kA4zqG4 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP372565.RAOXXnqziSGHhace8NTpIPZirK6JxQtu3rMjC-kA4zqG4 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP372565.RAOXXnqziSGHhace8NTpIPZirK6JxQtu3rMjC-kA4zqG4 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP372565.RAOXXnqziSGHhace8NTpIPZirK6JxQtu3rMjC-kA4zqG4 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP372565.RAOXXnqziSGHhace8NTpIPZirK6JxQtu3rMjC-kA4zqG4 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP372565.RAOXXnqziSGHhace8NTpIPZirK6JxQtu3rMjC-kA4zqG4 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP372565.RAOXXnqziSGHhace8NTpIPZirK6JxQtu3rMjC-kA4zqG4 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP372565.RAOXXnqziSGHhace8NTpIPZirK6JxQtu3rMjC-kA4zqG4 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP372565.RAOXXnqziSGHhace8NTpIPZirK6JxQtu3rMjC-kA4zqG4 http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP372565.RAOXXnqziSGHhace8NTpIPZirK6JxQtu3rMjC-kA4zqG4 http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0