@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:NP947302.RAlperZ6Qcdu1xUG1d9850C3dXBlEtcbF9HMR6TOr_FwM130_head { this: np:hasAssertion dgn-np:NP947302.RAlperZ6Qcdu1xUG1d9850C3dXBlEtcbF9HMR6TOr_FwM130_assertion; np:hasProvenance dgn-np:NP947302.RAlperZ6Qcdu1xUG1d9850C3dXBlEtcbF9HMR6TOr_FwM130_provenance; np:hasPublicationInfo dgn-np:NP947302.RAlperZ6Qcdu1xUG1d9850C3dXBlEtcbF9HMR6TOr_FwM130_publicationInfo; a np:Nanopublication . dgn-np:NP947302.RAlperZ6Qcdu1xUG1d9850C3dXBlEtcbF9HMR6TOr_FwM130_assertion a np:Assertion . dgn-np:NP947302.RAlperZ6Qcdu1xUG1d9850C3dXBlEtcbF9HMR6TOr_FwM130_provenance a np:Provenance . dgn-np:NP947302.RAlperZ6Qcdu1xUG1d9850C3dXBlEtcbF9HMR6TOr_FwM130_publicationInfo a np:PublicationInfo . } dgn-np:NP947302.RAlperZ6Qcdu1xUG1d9850C3dXBlEtcbF9HMR6TOr_FwM130_assertion { miriam-gene:57132 a ncit:C16612 . lld:C0751651 a ncit:C7057 . dgn-gda:DGN1ef057016cff21b160ac70bd6ae2ef6f sio:SIO_000628 miriam-gene:57132, lld:C0751651; a sio:SIO_001121 . } dgn-np:NP947302.RAlperZ6Qcdu1xUG1d9850C3dXBlEtcbF9HMR6TOr_FwM130_provenance { dgn-np:NP947302.RAlperZ6Qcdu1xUG1d9850C3dXBlEtcbF9HMR6TOr_FwM130_assertion dcterms:description "[This review focuses on our current knowledge of genetic defects of mtDNA replication (POLG, POLG2, C10orf2) and nucleotide metabolism (TYMP, TK2, DGOUK, and RRM2B) that cause instability of mtDNA and 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:22176657; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP947302.RAlperZ6Qcdu1xUG1d9850C3dXBlEtcbF9HMR6TOr_FwM130_publicationInfo { this: dcterms:created "2016-05-13T12:48:54+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 "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }