@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:NP537381.RAUa6SWKnQM-OxS08jR-jeefypV61uQRhvZ-kZI52i_a0130_head { this: np:hasAssertion dgn-np:NP537381.RAUa6SWKnQM-OxS08jR-jeefypV61uQRhvZ-kZI52i_a0130_assertion; np:hasProvenance dgn-np:NP537381.RAUa6SWKnQM-OxS08jR-jeefypV61uQRhvZ-kZI52i_a0130_provenance; np:hasPublicationInfo dgn-np:NP537381.RAUa6SWKnQM-OxS08jR-jeefypV61uQRhvZ-kZI52i_a0130_publicationInfo; a np:Nanopublication . dgn-np:NP537381.RAUa6SWKnQM-OxS08jR-jeefypV61uQRhvZ-kZI52i_a0130_assertion a np:Assertion . dgn-np:NP537381.RAUa6SWKnQM-OxS08jR-jeefypV61uQRhvZ-kZI52i_a0130_provenance a np:Provenance . dgn-np:NP537381.RAUa6SWKnQM-OxS08jR-jeefypV61uQRhvZ-kZI52i_a0130_publicationInfo a np:PublicationInfo . } dgn-np:NP537381.RAUa6SWKnQM-OxS08jR-jeefypV61uQRhvZ-kZI52i_a0130_assertion { miriam-gene:4519 a ncit:C16612 . lld:C0001125 a ncit:C7057 . dgn-gda:DGNf5393cad0f137fc5c1648222a3f851df sio:SIO_000628 miriam-gene:4519, lld:C0001125; a sio:SIO_001121 . } dgn-np:NP537381.RAUa6SWKnQM-OxS08jR-jeefypV61uQRhvZ-kZI52i_a0130_provenance { dgn-np:NP537381.RAUa6SWKnQM-OxS08jR-jeefypV61uQRhvZ-kZI52i_a0130_assertion dcterms:description "[We have analyzed the pathogenic role of a novel homoplasmic mutation (m.15533 A>G) in the cytochrome b (MT-CYB) gene in a patient presenting with lactic acidosis, seizures, mild mental delay, and behaviour abnormalities.]. 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:20862300; 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:NP537381.RAUa6SWKnQM-OxS08jR-jeefypV61uQRhvZ-kZI52i_a0130_publicationInfo { this: dcterms:created "2014-10-02T12:37:24+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" . }