@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:NP833500.RANsKdeJW2BTZoRHA3IOC7R1IxJAffQQOfJBFRkb-jOLA130_head { this: np:hasAssertion dgn-np:NP833500.RANsKdeJW2BTZoRHA3IOC7R1IxJAffQQOfJBFRkb-jOLA130_assertion; np:hasProvenance dgn-np:NP833500.RANsKdeJW2BTZoRHA3IOC7R1IxJAffQQOfJBFRkb-jOLA130_provenance; np:hasPublicationInfo dgn-np:NP833500.RANsKdeJW2BTZoRHA3IOC7R1IxJAffQQOfJBFRkb-jOLA130_publicationInfo; a np:Nanopublication . dgn-np:NP833500.RANsKdeJW2BTZoRHA3IOC7R1IxJAffQQOfJBFRkb-jOLA130_assertion a np:Assertion . dgn-np:NP833500.RANsKdeJW2BTZoRHA3IOC7R1IxJAffQQOfJBFRkb-jOLA130_provenance a np:Provenance . dgn-np:NP833500.RANsKdeJW2BTZoRHA3IOC7R1IxJAffQQOfJBFRkb-jOLA130_publicationInfo a np:PublicationInfo . } dgn-np:NP833500.RANsKdeJW2BTZoRHA3IOC7R1IxJAffQQOfJBFRkb-jOLA130_assertion { miriam-gene:9968 a ncit:C16612 . lld:C0037773 a ncit:C7057 . dgn-gda:DGNdbab57b0aa9302d61d4ccfc5fd798631 sio:SIO_000628 miriam-gene:9968, lld:C0037773; a sio:SIO_001121 . } dgn-np:NP833500.RANsKdeJW2BTZoRHA3IOC7R1IxJAffQQOfJBFRkb-jOLA130_provenance { dgn-np:NP833500.RANsKdeJW2BTZoRHA3IOC7R1IxJAffQQOfJBFRkb-jOLA130_assertion dcterms:description "[Moreover, mitochondrial dysfunction plays an important role in the pathophysiology of several well established nuclear genetic disorders, such as dominant optic atrophy (mutations in OPA1), Friedreich's ataxia (FRDA), hereditary spastic paraplegia (SPG7), and Wilson's disease (ATP7B).]. 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:12933917; 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:NP833500.RANsKdeJW2BTZoRHA3IOC7R1IxJAffQQOfJBFRkb-jOLA130_publicationInfo { this: dcterms:created "2015-08-25T14:46:06+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" . }