http://rdf.disgenet.org/resource/nanopub/NP633580.RAAFAJ84ZTmWYJy0bed7m1lMbQ6y8-yUQj30kGvfwxtSo130_head http://rdf.disgenet.org/resource/nanopub/NP633580.RAAFAJ84ZTmWYJy0bed7m1lMbQ6y8-yUQj30kGvfwxtSo http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP633580.RAAFAJ84ZTmWYJy0bed7m1lMbQ6y8-yUQj30kGvfwxtSo130_assertion http://rdf.disgenet.org/resource/nanopub/NP633580.RAAFAJ84ZTmWYJy0bed7m1lMbQ6y8-yUQj30kGvfwxtSo http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP633580.RAAFAJ84ZTmWYJy0bed7m1lMbQ6y8-yUQj30kGvfwxtSo130_provenance http://rdf.disgenet.org/resource/nanopub/NP633580.RAAFAJ84ZTmWYJy0bed7m1lMbQ6y8-yUQj30kGvfwxtSo http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP633580.RAAFAJ84ZTmWYJy0bed7m1lMbQ6y8-yUQj30kGvfwxtSo130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP633580.RAAFAJ84ZTmWYJy0bed7m1lMbQ6y8-yUQj30kGvfwxtSo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP633580.RAAFAJ84ZTmWYJy0bed7m1lMbQ6y8-yUQj30kGvfwxtSo130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP633580.RAAFAJ84ZTmWYJy0bed7m1lMbQ6y8-yUQj30kGvfwxtSo130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP633580.RAAFAJ84ZTmWYJy0bed7m1lMbQ6y8-yUQj30kGvfwxtSo130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP633580.RAAFAJ84ZTmWYJy0bed7m1lMbQ6y8-yUQj30kGvfwxtSo130_assertion http://identifiers.org/ncbigene/5428 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0342782 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGNc55ab964e13db337fec98b2ade3728a9 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5428 http://rdf.disgenet.org/resource/gda/DGNc55ab964e13db337fec98b2ade3728a9 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0342782 http://rdf.disgenet.org/resource/gda/DGNc55ab964e13db337fec98b2ade3728a9 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP633580.RAAFAJ84ZTmWYJy0bed7m1lMbQ6y8-yUQj30kGvfwxtSo130_provenance http://rdf.disgenet.org/resource/nanopub/NP633580.RAAFAJ84ZTmWYJy0bed7m1lMbQ6y8-yUQj30kGvfwxtSo130_assertion http://purl.org/dc/terms/description [Mitochondrial DNA depletion is caused by germline deletions and duplications of segments within the mtDNA as well as germline mutations in the nuclear genes responsible for mtDNA duplication (the polymerase apparatus including POLG, POLG2 and PEO1) and mtDNA maintenance (those genes that regulate the deoxynucleotide triphosphate pools and other functions including TP1, TK2, DGUOK, SUCLA1, SUCLA2, ANT1, RRM2B and MPV17).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP633580.RAAFAJ84ZTmWYJy0bed7m1lMbQ6y8-yUQj30kGvfwxtSo130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP633580.RAAFAJ84ZTmWYJy0bed7m1lMbQ6y8-yUQj30kGvfwxtSo130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20558295 http://rdf.disgenet.org/resource/nanopub/NP633580.RAAFAJ84ZTmWYJy0bed7m1lMbQ6y8-yUQj30kGvfwxtSo130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP633580.RAAFAJ84ZTmWYJy0bed7m1lMbQ6y8-yUQj30kGvfwxtSo130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP633580.RAAFAJ84ZTmWYJy0bed7m1lMbQ6y8-yUQj30kGvfwxtSo130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP633580.RAAFAJ84ZTmWYJy0bed7m1lMbQ6y8-yUQj30kGvfwxtSo http://purl.org/dc/terms/created 2015-08-25T14:43:59+02:00 http://rdf.disgenet.org/resource/nanopub/NP633580.RAAFAJ84ZTmWYJy0bed7m1lMbQ6y8-yUQj30kGvfwxtSo http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP633580.RAAFAJ84ZTmWYJy0bed7m1lMbQ6y8-yUQj30kGvfwxtSo http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP633580.RAAFAJ84ZTmWYJy0bed7m1lMbQ6y8-yUQj30kGvfwxtSo http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP633580.RAAFAJ84ZTmWYJy0bed7m1lMbQ6y8-yUQj30kGvfwxtSo http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP633580.RAAFAJ84ZTmWYJy0bed7m1lMbQ6y8-yUQj30kGvfwxtSo http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP633580.RAAFAJ84ZTmWYJy0bed7m1lMbQ6y8-yUQj30kGvfwxtSo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP633580.RAAFAJ84ZTmWYJy0bed7m1lMbQ6y8-yUQj30kGvfwxtSo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP633580.RAAFAJ84ZTmWYJy0bed7m1lMbQ6y8-yUQj30kGvfwxtSo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP633580.RAAFAJ84ZTmWYJy0bed7m1lMbQ6y8-yUQj30kGvfwxtSo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP633580.RAAFAJ84ZTmWYJy0bed7m1lMbQ6y8-yUQj30kGvfwxtSo http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP633580.RAAFAJ84ZTmWYJy0bed7m1lMbQ6y8-yUQj30kGvfwxtSo http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0