@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:NP661233.RA0AQfLK9d_bUbrqeYtqYysLPGwuvlyr3fKc3Kqd4PM_o130_head { this: np:hasAssertion dgn-np:NP661233.RA0AQfLK9d_bUbrqeYtqYysLPGwuvlyr3fKc3Kqd4PM_o130_assertion; np:hasProvenance dgn-np:NP661233.RA0AQfLK9d_bUbrqeYtqYysLPGwuvlyr3fKc3Kqd4PM_o130_provenance; np:hasPublicationInfo dgn-np:NP661233.RA0AQfLK9d_bUbrqeYtqYysLPGwuvlyr3fKc3Kqd4PM_o130_publicationInfo; a np:Nanopublication . dgn-np:NP661233.RA0AQfLK9d_bUbrqeYtqYysLPGwuvlyr3fKc3Kqd4PM_o130_assertion a np:Assertion . dgn-np:NP661233.RA0AQfLK9d_bUbrqeYtqYysLPGwuvlyr3fKc3Kqd4PM_o130_provenance a np:Provenance . dgn-np:NP661233.RA0AQfLK9d_bUbrqeYtqYysLPGwuvlyr3fKc3Kqd4PM_o130_publicationInfo a np:PublicationInfo . } dgn-np:NP661233.RA0AQfLK9d_bUbrqeYtqYysLPGwuvlyr3fKc3Kqd4PM_o130_assertion { miriam-gene:4566 a ncit:C16612 . lld:C0085584 a ncit:C7057 . dgn-gda:DGN419ef0e5a7a10c5b7b71b0511c007ba0 sio:SIO_000628 miriam-gene:4566, lld:C0085584; a sio:SIO_001121 . } dgn-np:NP661233.RA0AQfLK9d_bUbrqeYtqYysLPGwuvlyr3fKc3Kqd4PM_o130_provenance { dgn-np:NP661233.RA0AQfLK9d_bUbrqeYtqYysLPGwuvlyr3fKc3Kqd4PM_o130_assertion dcterms:description "[While 10 probands had clinical features consistent with the syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), usually associated with this mutation, 12 probands had other phenotypes including other encephalopathies, chronic progressive external ophthalmoplegia (CPEO), myoclonic epilepsy and ragged red fibres (MERRF), myopathy alone and diabetes and deafness.]. 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:7600089; 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:NP661233.RA0AQfLK9d_bUbrqeYtqYysLPGwuvlyr3fKc3Kqd4PM_o130_publicationInfo { this: dcterms:created "2014-10-02T12:38:39+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" . }