@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:NP277906.RATFlyrate0IVKy7Ls3ShzKNy8BIy5qU4MtqjIJMeJrQ0130_head { this: np:hasAssertion dgn-np:NP277906.RATFlyrate0IVKy7Ls3ShzKNy8BIy5qU4MtqjIJMeJrQ0130_assertion; np:hasProvenance dgn-np:NP277906.RATFlyrate0IVKy7Ls3ShzKNy8BIy5qU4MtqjIJMeJrQ0130_provenance; np:hasPublicationInfo dgn-np:NP277906.RATFlyrate0IVKy7Ls3ShzKNy8BIy5qU4MtqjIJMeJrQ0130_publicationInfo; a np:Nanopublication . dgn-np:NP277906.RATFlyrate0IVKy7Ls3ShzKNy8BIy5qU4MtqjIJMeJrQ0130_assertion a np:Assertion . dgn-np:NP277906.RATFlyrate0IVKy7Ls3ShzKNy8BIy5qU4MtqjIJMeJrQ0130_provenance a np:Provenance . dgn-np:NP277906.RATFlyrate0IVKy7Ls3ShzKNy8BIy5qU4MtqjIJMeJrQ0130_publicationInfo a np:PublicationInfo . } dgn-np:NP277906.RATFlyrate0IVKy7Ls3ShzKNy8BIy5qU4MtqjIJMeJrQ0130_assertion { miriam-gene:4566 a ncit:C16612 . lld:C0014550 a ncit:C7057 . dgn-gda:DGN130aebaad0e49d2c8f258ce97c571232 sio:SIO_000628 miriam-gene:4566, lld:C0014550; a sio:SIO_001121 . } dgn-np:NP277906.RATFlyrate0IVKy7Ls3ShzKNy8BIy5qU4MtqjIJMeJrQ0130_provenance { dgn-np:NP277906.RATFlyrate0IVKy7Ls3ShzKNy8BIy5qU4MtqjIJMeJrQ0130_assertion dcterms:description "[Five patients from three families with the syndrome of myoclonic epilepsy and ragged red fibres (MERRF), associated with the mitochondrial DNA point mutation at position 8344, were studied neurophysiologically to determine the characteristics of their myoclonus.]. 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:8006688; 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:NP277906.RATFlyrate0IVKy7Ls3ShzKNy8BIy5qU4MtqjIJMeJrQ0130_publicationInfo { this: dcterms:created "2014-10-02T12:34:36+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" . }