http://rdf.disgenet.org/resource/nanopub/NP1341538.RAJQvXH37C0wDvFMHI70dSlfMWKjbSQ_q9jEtCOCalr6c#head http://rdf.disgenet.org/resource/nanopub/NP1341538.RAJQvXH37C0wDvFMHI70dSlfMWKjbSQ_q9jEtCOCalr6c http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1341538.RAJQvXH37C0wDvFMHI70dSlfMWKjbSQ_q9jEtCOCalr6c#assertion http://rdf.disgenet.org/resource/nanopub/NP1341538.RAJQvXH37C0wDvFMHI70dSlfMWKjbSQ_q9jEtCOCalr6c http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1341538.RAJQvXH37C0wDvFMHI70dSlfMWKjbSQ_q9jEtCOCalr6c#provenance http://rdf.disgenet.org/resource/nanopub/NP1341538.RAJQvXH37C0wDvFMHI70dSlfMWKjbSQ_q9jEtCOCalr6c http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1341538.RAJQvXH37C0wDvFMHI70dSlfMWKjbSQ_q9jEtCOCalr6c#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1341538.RAJQvXH37C0wDvFMHI70dSlfMWKjbSQ_q9jEtCOCalr6c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1341538.RAJQvXH37C0wDvFMHI70dSlfMWKjbSQ_q9jEtCOCalr6c#assertion http://rdf.disgenet.org/resource/gda/DGN100610132d5a1454701465f7315f53cc http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/56652 http://rdf.disgenet.org/resource/gda/DGN100610132d5a1454701465f7315f53cc http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0751651 http://rdf.disgenet.org/resource/gda/DGN100610132d5a1454701465f7315f53cc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1341538.RAJQvXH37C0wDvFMHI70dSlfMWKjbSQ_q9jEtCOCalr6c#provenance http://rdf.disgenet.org/resource/nanopub/NP1341538.RAJQvXH37C0wDvFMHI70dSlfMWKjbSQ_q9jEtCOCalr6c#assertion http://purl.org/dc/terms/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. http://rdf.disgenet.org/resource/nanopub/NP1341538.RAJQvXH37C0wDvFMHI70dSlfMWKjbSQ_q9jEtCOCalr6c#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1341538.RAJQvXH37C0wDvFMHI70dSlfMWKjbSQ_q9jEtCOCalr6c#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22176657 http://rdf.disgenet.org/resource/nanopub/NP1341538.RAJQvXH37C0wDvFMHI70dSlfMWKjbSQ_q9jEtCOCalr6c#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1341538.RAJQvXH37C0wDvFMHI70dSlfMWKjbSQ_q9jEtCOCalr6c#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1341538.RAJQvXH37C0wDvFMHI70dSlfMWKjbSQ_q9jEtCOCalr6c#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1341538.RAJQvXH37C0wDvFMHI70dSlfMWKjbSQ_q9jEtCOCalr6c http://purl.org/dc/terms/created 2017-10-17T13:18:42+02:00 http://rdf.disgenet.org/resource/nanopub/NP1341538.RAJQvXH37C0wDvFMHI70dSlfMWKjbSQ_q9jEtCOCalr6c http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1341538.RAJQvXH37C0wDvFMHI70dSlfMWKjbSQ_q9jEtCOCalr6c http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1341538.RAJQvXH37C0wDvFMHI70dSlfMWKjbSQ_q9jEtCOCalr6c http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1341538.RAJQvXH37C0wDvFMHI70dSlfMWKjbSQ_q9jEtCOCalr6c http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1341538.RAJQvXH37C0wDvFMHI70dSlfMWKjbSQ_q9jEtCOCalr6c http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1341538.RAJQvXH37C0wDvFMHI70dSlfMWKjbSQ_q9jEtCOCalr6c http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1341538.RAJQvXH37C0wDvFMHI70dSlfMWKjbSQ_q9jEtCOCalr6c http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1341538.RAJQvXH37C0wDvFMHI70dSlfMWKjbSQ_q9jEtCOCalr6c http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1341538.RAJQvXH37C0wDvFMHI70dSlfMWKjbSQ_q9jEtCOCalr6c http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1341538.RAJQvXH37C0wDvFMHI70dSlfMWKjbSQ_q9jEtCOCalr6c http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1341538.RAJQvXH37C0wDvFMHI70dSlfMWKjbSQ_q9jEtCOCalr6c http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0