@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:NP1010288.RAmR7gt3065jXCk79qXZlCjDuKcFgXXekSiafQkivqVlQ130_head { this: np:hasAssertion dgn-np:NP1010288.RAmR7gt3065jXCk79qXZlCjDuKcFgXXekSiafQkivqVlQ130_assertion; np:hasProvenance dgn-np:NP1010288.RAmR7gt3065jXCk79qXZlCjDuKcFgXXekSiafQkivqVlQ130_provenance; np:hasPublicationInfo dgn-np:NP1010288.RAmR7gt3065jXCk79qXZlCjDuKcFgXXekSiafQkivqVlQ130_publicationInfo; a np:Nanopublication . dgn-np:NP1010288.RAmR7gt3065jXCk79qXZlCjDuKcFgXXekSiafQkivqVlQ130_assertion a np:Assertion . dgn-np:NP1010288.RAmR7gt3065jXCk79qXZlCjDuKcFgXXekSiafQkivqVlQ130_provenance a np:Provenance . dgn-np:NP1010288.RAmR7gt3065jXCk79qXZlCjDuKcFgXXekSiafQkivqVlQ130_publicationInfo a np:PublicationInfo . } dgn-np:NP1010288.RAmR7gt3065jXCk79qXZlCjDuKcFgXXekSiafQkivqVlQ130_assertion { miriam-gene:728441 a ncit:C16612 . lld:C0751651 a ncit:C7057 . dgn-gda:DGN822b4bc21e15de135a550adeda2c151d sio:SIO_000628 miriam-gene:728441, lld:C0751651; a sio:SIO_001121 . } dgn-np:NP1010288.RAmR7gt3065jXCk79qXZlCjDuKcFgXXekSiafQkivqVlQ130_provenance { dgn-np:NP1010288.RAmR7gt3065jXCk79qXZlCjDuKcFgXXekSiafQkivqVlQ130_assertion dcterms:description "[Our findings that the frequency of the haplotype AAC, and AAT were significantly higher in the unaffected cases and the frequencies of haplotype GGT were significantly higher in LHON cases, indicate that it might have a role in the penetrance of this mitochondrial disease.]. 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:23973714; 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:NP1010288.RAmR7gt3065jXCk79qXZlCjDuKcFgXXekSiafQkivqVlQ130_publicationInfo { this: dcterms:created "2015-08-25T14:48:07+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" . }