@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:NP810065.RAt2sOJW_fzhfQp7VMevPFHeVDZwGE7Uy2gAU1nbENOjQ130_head { this: np:hasAssertion dgn-np:NP810065.RAt2sOJW_fzhfQp7VMevPFHeVDZwGE7Uy2gAU1nbENOjQ130_assertion; np:hasProvenance dgn-np:NP810065.RAt2sOJW_fzhfQp7VMevPFHeVDZwGE7Uy2gAU1nbENOjQ130_provenance; np:hasPublicationInfo dgn-np:NP810065.RAt2sOJW_fzhfQp7VMevPFHeVDZwGE7Uy2gAU1nbENOjQ130_publicationInfo; a np:Nanopublication . dgn-np:NP810065.RAt2sOJW_fzhfQp7VMevPFHeVDZwGE7Uy2gAU1nbENOjQ130_assertion a np:Assertion . dgn-np:NP810065.RAt2sOJW_fzhfQp7VMevPFHeVDZwGE7Uy2gAU1nbENOjQ130_provenance a np:Provenance . dgn-np:NP810065.RAt2sOJW_fzhfQp7VMevPFHeVDZwGE7Uy2gAU1nbENOjQ130_publicationInfo a np:PublicationInfo . } dgn-np:NP810065.RAt2sOJW_fzhfQp7VMevPFHeVDZwGE7Uy2gAU1nbENOjQ130_assertion { miriam-gene:5362 a ncit:C16612 . lld:C1328349 a ncit:C7057 . dgn-gda:DGN6c803942a9735e4cdac8c264b9fec9fc sio:SIO_000628 miriam-gene:5362, lld:C1328349; a sio:SIO_001121 . } dgn-np:NP810065.RAt2sOJW_fzhfQp7VMevPFHeVDZwGE7Uy2gAU1nbENOjQ130_provenance { dgn-np:NP810065.RAt2sOJW_fzhfQp7VMevPFHeVDZwGE7Uy2gAU1nbENOjQ130_assertion dcterms:description "[We performed detailed neurological, neuropsychological and ophthalmological phenotyping of a mother and four daughters with NARP syndrome from the mtDNA m.8993T>C ATPase 6 mutation, including 3-T brain MRI, spectral domain optical coherence tomography (SD-OCT), adaptive optics scanning laser ophthalmoscopy (AOSLO), electromyography and nerve conduction studies (EMG-NCS) and formal neuropsychological testing.]. 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:20953793; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP810065.RAt2sOJW_fzhfQp7VMevPFHeVDZwGE7Uy2gAU1nbENOjQ130_publicationInfo { this: dcterms:created "2014-10-02T12:40:16+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }