@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:NP576492.RADF-duBWDLCpiAmBMsgQusbmBJA5-b94WNkc0dsHn59s130_head { this: np:hasAssertion dgn-np:NP576492.RADF-duBWDLCpiAmBMsgQusbmBJA5-b94WNkc0dsHn59s130_assertion; np:hasProvenance dgn-np:NP576492.RADF-duBWDLCpiAmBMsgQusbmBJA5-b94WNkc0dsHn59s130_provenance; np:hasPublicationInfo dgn-np:NP576492.RADF-duBWDLCpiAmBMsgQusbmBJA5-b94WNkc0dsHn59s130_publicationInfo; a np:Nanopublication . dgn-np:NP576492.RADF-duBWDLCpiAmBMsgQusbmBJA5-b94WNkc0dsHn59s130_assertion a np:Assertion . dgn-np:NP576492.RADF-duBWDLCpiAmBMsgQusbmBJA5-b94WNkc0dsHn59s130_provenance a np:Provenance . dgn-np:NP576492.RADF-duBWDLCpiAmBMsgQusbmBJA5-b94WNkc0dsHn59s130_publicationInfo a np:PublicationInfo . } dgn-np:NP576492.RADF-duBWDLCpiAmBMsgQusbmBJA5-b94WNkc0dsHn59s130_assertion { miriam-gene:4535 a ncit:C16612 . lld:C0001125 a ncit:C7057 . dgn-gda:DGN22c9bc4c557968d28424d845da4dcf41 sio:SIO_000628 miriam-gene:4535, lld:C0001125; a sio:SIO_001121 . } dgn-np:NP576492.RADF-duBWDLCpiAmBMsgQusbmBJA5-b94WNkc0dsHn59s130_provenance { dgn-np:NP576492.RADF-duBWDLCpiAmBMsgQusbmBJA5-b94WNkc0dsHn59s130_assertion dcterms:description "[However, RRF and lactic acidosis are absent in Leber hereditary optic neuropathy (LHON) (one point mutation affecting ND4 gene, two point mutations affecting ND1 gene, and one point mutation affecting the apocytochrome b subunit of complex III), and the condition associated with maternally inherited sensory neuropathy (N), ataxia (A), retinitis pigmentosa (RP), developmental delay, dementia, seizures, and limb weakness (NARP) (point mutation affecting ATPase subunit 6 gene).]. 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:8338207; 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:NP576492.RADF-duBWDLCpiAmBMsgQusbmBJA5-b94WNkc0dsHn59s130_publicationInfo { this: dcterms:created "2015-08-25T14:43:23+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" . }