@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:NP848585.RAV4moVSGsdzqYaQl5sWrV41nMzcsmdt9_3aFFLl7rL_0130_head { this: np:hasAssertion dgn-np:NP848585.RAV4moVSGsdzqYaQl5sWrV41nMzcsmdt9_3aFFLl7rL_0130_assertion; np:hasProvenance dgn-np:NP848585.RAV4moVSGsdzqYaQl5sWrV41nMzcsmdt9_3aFFLl7rL_0130_provenance; np:hasPublicationInfo dgn-np:NP848585.RAV4moVSGsdzqYaQl5sWrV41nMzcsmdt9_3aFFLl7rL_0130_publicationInfo; a np:Nanopublication . dgn-np:NP848585.RAV4moVSGsdzqYaQl5sWrV41nMzcsmdt9_3aFFLl7rL_0130_assertion a np:Assertion . dgn-np:NP848585.RAV4moVSGsdzqYaQl5sWrV41nMzcsmdt9_3aFFLl7rL_0130_provenance a np:Provenance . dgn-np:NP848585.RAV4moVSGsdzqYaQl5sWrV41nMzcsmdt9_3aFFLl7rL_0130_publicationInfo a np:PublicationInfo . } dgn-np:NP848585.RAV4moVSGsdzqYaQl5sWrV41nMzcsmdt9_3aFFLl7rL_0130_assertion { miriam-gene:10606 a ncit:C16612 . lld:C0039585 a ncit:C7057 . dgn-gda:DGN78b16aaaab02d9ea7470c6bb5421635a sio:SIO_000628 miriam-gene:10606, lld:C0039585; a sio:SIO_001121 . } dgn-np:NP848585.RAV4moVSGsdzqYaQl5sWrV41nMzcsmdt9_3aFFLl7rL_0130_provenance { dgn-np:NP848585.RAV4moVSGsdzqYaQl5sWrV41nMzcsmdt9_3aFFLl7rL_0130_assertion dcterms:description "[Androgen receptor (AR) gene mutations are the most frequent cause of 46,XY disorders of sex development (DSD), and are associated with a variety of phenotypes ranging from phenotypic women (Complete Androgen Insensitivity Syndrome or CAIS) to milder degrees of undervirilisation (Partial Androgen Insensitivity Syndrome or PAIS) or men with infertility only (Mild Androgen Insensitivity Syndrome or MAIS).]. 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:24186597; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP848585.RAV4moVSGsdzqYaQl5sWrV41nMzcsmdt9_3aFFLl7rL_0130_publicationInfo { this: dcterms:created "2015-08-25T14:46:15+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }