@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP1365909.RAlxtPyJHgyTccVKDpmQIAE1ujuXf7xDdSW9u_3XbVzsI130_head { this: np:hasAssertion dgn-np:NP1365909.RAlxtPyJHgyTccVKDpmQIAE1ujuXf7xDdSW9u_3XbVzsI130_assertion; np:hasProvenance dgn-np:NP1365909.RAlxtPyJHgyTccVKDpmQIAE1ujuXf7xDdSW9u_3XbVzsI130_provenance; np:hasPublicationInfo dgn-np:NP1365909.RAlxtPyJHgyTccVKDpmQIAE1ujuXf7xDdSW9u_3XbVzsI130_publicationInfo; a np:Nanopublication . dgn-np:NP1365909.RAlxtPyJHgyTccVKDpmQIAE1ujuXf7xDdSW9u_3XbVzsI130_assertion a np:Assertion . dgn-np:NP1365909.RAlxtPyJHgyTccVKDpmQIAE1ujuXf7xDdSW9u_3XbVzsI130_provenance a np:Provenance . dgn-np:NP1365909.RAlxtPyJHgyTccVKDpmQIAE1ujuXf7xDdSW9u_3XbVzsI130_publicationInfo a np:PublicationInfo . } dgn-np:NP1365909.RAlxtPyJHgyTccVKDpmQIAE1ujuXf7xDdSW9u_3XbVzsI130_assertion { miriam-gene:6662 a ncit:C16612 . lld:C0000768 a ncit:C7057 . dgn-gda:DGN6c92d694486e97ef313fd4d5371cc363 sio:SIO_000628 miriam-gene:6662, lld:C0000768; a sio:SIO_001121 . } dgn-np:NP1365909.RAlxtPyJHgyTccVKDpmQIAE1ujuXf7xDdSW9u_3XbVzsI130_provenance { dgn-np:NP1365909.RAlxtPyJHgyTccVKDpmQIAE1ujuXf7xDdSW9u_3XbVzsI130_assertion dcterms: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."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:9002675; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP1365909.RAlxtPyJHgyTccVKDpmQIAE1ujuXf7xDdSW9u_3XbVzsI130_publicationInfo { this: dcterms:created "2016-05-13T12:52:05+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }