@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:NP462170.RAV1FddhxI9HWl5cqoDbSa-_tx1tk1pGdMyRPMSl2y_XI130_head { this: np:hasAssertion dgn-np:NP462170.RAV1FddhxI9HWl5cqoDbSa-_tx1tk1pGdMyRPMSl2y_XI130_assertion; np:hasProvenance dgn-np:NP462170.RAV1FddhxI9HWl5cqoDbSa-_tx1tk1pGdMyRPMSl2y_XI130_provenance; np:hasPublicationInfo dgn-np:NP462170.RAV1FddhxI9HWl5cqoDbSa-_tx1tk1pGdMyRPMSl2y_XI130_publicationInfo; a np:Nanopublication . dgn-np:NP462170.RAV1FddhxI9HWl5cqoDbSa-_tx1tk1pGdMyRPMSl2y_XI130_assertion a np:Assertion . dgn-np:NP462170.RAV1FddhxI9HWl5cqoDbSa-_tx1tk1pGdMyRPMSl2y_XI130_provenance a np:Provenance . dgn-np:NP462170.RAV1FddhxI9HWl5cqoDbSa-_tx1tk1pGdMyRPMSl2y_XI130_publicationInfo a np:PublicationInfo . } dgn-np:NP462170.RAV1FddhxI9HWl5cqoDbSa-_tx1tk1pGdMyRPMSl2y_XI130_assertion { miriam-gene:668 a ncit:C16612 . lld:C0085215 a ncit:C7057 . dgn-gda:DGN6b706cd193b6d34574971c60fb6b3a07 sio:SIO_000628 miriam-gene:668, lld:C0085215; a sio:SIO_001121 . } dgn-np:NP462170.RAV1FddhxI9HWl5cqoDbSa-_tx1tk1pGdMyRPMSl2y_XI130_provenance { dgn-np:NP462170.RAV1FddhxI9HWl5cqoDbSa-_tx1tk1pGdMyRPMSl2y_XI130_assertion dcterms:description "[Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), an autosomal dominant syndrome in which an eyelid malformation is associated (type I) or not (type II) with premature ovarian failure (POF), has recently been ascribed to mutations in the forkhead transcription factor 2 (FOXL2) gene.]. 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:15450400; 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:NP462170.RAV1FddhxI9HWl5cqoDbSa-_tx1tk1pGdMyRPMSl2y_XI130_publicationInfo { this: dcterms:created "2016-05-13T12:45:14+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" . }