@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:NP374114.RAv2Izs2NjLz4ZMxsPv-uAc927H0QfSbkuLtG1fJugOSA130_head { this: np:hasAssertion dgn-np:NP374114.RAv2Izs2NjLz4ZMxsPv-uAc927H0QfSbkuLtG1fJugOSA130_assertion; np:hasProvenance dgn-np:NP374114.RAv2Izs2NjLz4ZMxsPv-uAc927H0QfSbkuLtG1fJugOSA130_provenance; np:hasPublicationInfo dgn-np:NP374114.RAv2Izs2NjLz4ZMxsPv-uAc927H0QfSbkuLtG1fJugOSA130_publicationInfo; a np:Nanopublication . dgn-np:NP374114.RAv2Izs2NjLz4ZMxsPv-uAc927H0QfSbkuLtG1fJugOSA130_assertion a np:Assertion . dgn-np:NP374114.RAv2Izs2NjLz4ZMxsPv-uAc927H0QfSbkuLtG1fJugOSA130_provenance a np:Provenance . dgn-np:NP374114.RAv2Izs2NjLz4ZMxsPv-uAc927H0QfSbkuLtG1fJugOSA130_publicationInfo a np:PublicationInfo . } dgn-np:NP374114.RAv2Izs2NjLz4ZMxsPv-uAc927H0QfSbkuLtG1fJugOSA130_assertion { miriam-gene:6658 a ncit:C16612 . lld:C0032002 a ncit:C7057 . dgn-gda:DGN0416b01cbb9c6ed0add97f72dea6532b sio:SIO_000628 miriam-gene:6658, lld:C0032002; a sio:SIO_001123 . } dgn-np:NP374114.RAv2Izs2NjLz4ZMxsPv-uAc927H0QfSbkuLtG1fJugOSA130_provenance { dgn-np:NP374114.RAv2Izs2NjLz4ZMxsPv-uAc927H0QfSbkuLtG1fJugOSA130_assertion dcterms:description "[The expression pattern during neural and pituitary development suggests that dysfunction of the SOX3 protein caused by the polyalanine expansion might disturb transcription pathways and the regulation of genes involved in cellular processes and functions required for cognitive and pituitary development.]. 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:12428212; 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:NP374114.RAv2Izs2NjLz4ZMxsPv-uAc927H0QfSbkuLtG1fJugOSA130_publicationInfo { this: dcterms:created "2016-05-13T12:44:35+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" . }