@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:NP602631.RAj-kzVsBozbC5soFXSdmyX9fDYj9vQQGXqABtaD-uP9o130_head { this: np:hasAssertion dgn-np:NP602631.RAj-kzVsBozbC5soFXSdmyX9fDYj9vQQGXqABtaD-uP9o130_assertion; np:hasProvenance dgn-np:NP602631.RAj-kzVsBozbC5soFXSdmyX9fDYj9vQQGXqABtaD-uP9o130_provenance; np:hasPublicationInfo dgn-np:NP602631.RAj-kzVsBozbC5soFXSdmyX9fDYj9vQQGXqABtaD-uP9o130_publicationInfo; a np:Nanopublication . dgn-np:NP602631.RAj-kzVsBozbC5soFXSdmyX9fDYj9vQQGXqABtaD-uP9o130_assertion a np:Assertion . dgn-np:NP602631.RAj-kzVsBozbC5soFXSdmyX9fDYj9vQQGXqABtaD-uP9o130_provenance a np:Provenance . dgn-np:NP602631.RAj-kzVsBozbC5soFXSdmyX9fDYj9vQQGXqABtaD-uP9o130_publicationInfo a np:PublicationInfo . } dgn-np:NP602631.RAj-kzVsBozbC5soFXSdmyX9fDYj9vQQGXqABtaD-uP9o130_assertion { miriam-gene:4976 a ncit:C16612 . lld:C0029132 a ncit:C7057 . dgn-gda:DGN2fe1b5772a19e86ac2f218352a1d3746 sio:SIO_000628 miriam-gene:4976, lld:C0029132; a sio:SIO_001121 . } dgn-np:NP602631.RAj-kzVsBozbC5soFXSdmyX9fDYj9vQQGXqABtaD-uP9o130_provenance { dgn-np:NP602631.RAj-kzVsBozbC5soFXSdmyX9fDYj9vQQGXqABtaD-uP9o130_assertion dcterms:description "[This study describes a clinical series of 40 patients from Saudi Arabia with a positive DOA phenotype (i.e., decreased visual acuity during the first 2 decades of life, temporal or global optic disc pallor, and absence of other neurological or ophthalmological diseases that could explain the optic neuropathy) who underwent molecular genetic testing for OPA1 (and, in some cases, for OPA3).]. 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:24051421; 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:NP602631.RAj-kzVsBozbC5soFXSdmyX9fDYj9vQQGXqABtaD-uP9o130_publicationInfo { this: dcterms:created "2015-08-25T14:43:40+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" . }