@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:NP1113520.RAgCrywNsJdJE8FIQx1X_SscRpJ-dYbaorWZFh440b8EI130_head { this: np:hasAssertion dgn-np:NP1113520.RAgCrywNsJdJE8FIQx1X_SscRpJ-dYbaorWZFh440b8EI130_assertion; np:hasProvenance dgn-np:NP1113520.RAgCrywNsJdJE8FIQx1X_SscRpJ-dYbaorWZFh440b8EI130_provenance; np:hasPublicationInfo dgn-np:NP1113520.RAgCrywNsJdJE8FIQx1X_SscRpJ-dYbaorWZFh440b8EI130_publicationInfo; a np:Nanopublication . dgn-np:NP1113520.RAgCrywNsJdJE8FIQx1X_SscRpJ-dYbaorWZFh440b8EI130_assertion a np:Assertion . dgn-np:NP1113520.RAgCrywNsJdJE8FIQx1X_SscRpJ-dYbaorWZFh440b8EI130_provenance a np:Provenance . dgn-np:NP1113520.RAgCrywNsJdJE8FIQx1X_SscRpJ-dYbaorWZFh440b8EI130_publicationInfo a np:PublicationInfo . } dgn-np:NP1113520.RAgCrywNsJdJE8FIQx1X_SscRpJ-dYbaorWZFh440b8EI130_assertion { miriam-gene:4976 a ncit:C16612 . lld:C0338508 a ncit:C7057 . dgn-gda:DGN13dbb28be197f793e9e70ba519d60e2a sio:SIO_000628 miriam-gene:4976, lld:C0338508; a sio:SIO_001121 . } dgn-np:NP1113520.RAgCrywNsJdJE8FIQx1X_SscRpJ-dYbaorWZFh440b8EI130_provenance { dgn-np:NP1113520.RAgCrywNsJdJE8FIQx1X_SscRpJ-dYbaorWZFh440b8EI130_assertion dcterms:description "[Since more and more evidence shows that other cell types are affected as well, we would like to discuss the pathology of dominant optic atrophy, which is caused by heterozygous sequence variants in OPA1, in the light of the current view on OPA1 protein function in mitochondrial quality control, in particular on its function in mitochondrial fusion and cytochrome C release.]. 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:24067127; 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:NP1113520.RAgCrywNsJdJE8FIQx1X_SscRpJ-dYbaorWZFh440b8EI130_publicationInfo { this: dcterms:created "2016-05-13T12:50:10+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" . }