http://rdf.disgenet.org/resource/nanopub/NP1024538.RAJ-meKjQ4YLPVCaFAOXM64LDtOtdvmUaRrsIZGuKOQeg130_head http://rdf.disgenet.org/resource/nanopub/NP1024538.RAJ-meKjQ4YLPVCaFAOXM64LDtOtdvmUaRrsIZGuKOQeg http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1024538.RAJ-meKjQ4YLPVCaFAOXM64LDtOtdvmUaRrsIZGuKOQeg130_assertion http://rdf.disgenet.org/resource/nanopub/NP1024538.RAJ-meKjQ4YLPVCaFAOXM64LDtOtdvmUaRrsIZGuKOQeg http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1024538.RAJ-meKjQ4YLPVCaFAOXM64LDtOtdvmUaRrsIZGuKOQeg130_provenance http://rdf.disgenet.org/resource/nanopub/NP1024538.RAJ-meKjQ4YLPVCaFAOXM64LDtOtdvmUaRrsIZGuKOQeg http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1024538.RAJ-meKjQ4YLPVCaFAOXM64LDtOtdvmUaRrsIZGuKOQeg130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1024538.RAJ-meKjQ4YLPVCaFAOXM64LDtOtdvmUaRrsIZGuKOQeg http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1024538.RAJ-meKjQ4YLPVCaFAOXM64LDtOtdvmUaRrsIZGuKOQeg130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1024538.RAJ-meKjQ4YLPVCaFAOXM64LDtOtdvmUaRrsIZGuKOQeg130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1024538.RAJ-meKjQ4YLPVCaFAOXM64LDtOtdvmUaRrsIZGuKOQeg130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1024538.RAJ-meKjQ4YLPVCaFAOXM64LDtOtdvmUaRrsIZGuKOQeg130_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/C0751651 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/DGNfdf469736045040235c8e1c6219e8393 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5428 http://rdf.disgenet.org/resource/gda/DGNfdf469736045040235c8e1c6219e8393 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0751651 http://rdf.disgenet.org/resource/gda/DGNfdf469736045040235c8e1c6219e8393 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1024538.RAJ-meKjQ4YLPVCaFAOXM64LDtOtdvmUaRrsIZGuKOQeg130_provenance http://rdf.disgenet.org/resource/nanopub/NP1024538.RAJ-meKjQ4YLPVCaFAOXM64LDtOtdvmUaRrsIZGuKOQeg130_assertion http://purl.org/dc/terms/description [Mutations in the nuclear-encoded mitochondrial maintenance gene RRM2B are an important cause of familial mitochondrial disease in both adults and children and represent the third most common cause of multiple mitochondrial DNA deletions in adults, following POLG [polymerase (DNA directed), gamma] and PEO1 (now called C10ORF2, encoding the Twinkle helicase) mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1024538.RAJ-meKjQ4YLPVCaFAOXM64LDtOtdvmUaRrsIZGuKOQeg130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1024538.RAJ-meKjQ4YLPVCaFAOXM64LDtOtdvmUaRrsIZGuKOQeg130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23107649 http://rdf.disgenet.org/resource/nanopub/NP1024538.RAJ-meKjQ4YLPVCaFAOXM64LDtOtdvmUaRrsIZGuKOQeg130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1024538.RAJ-meKjQ4YLPVCaFAOXM64LDtOtdvmUaRrsIZGuKOQeg130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1024538.RAJ-meKjQ4YLPVCaFAOXM64LDtOtdvmUaRrsIZGuKOQeg130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1024538.RAJ-meKjQ4YLPVCaFAOXM64LDtOtdvmUaRrsIZGuKOQeg http://purl.org/dc/terms/created 2016-05-13T12:49:30+02:00 http://rdf.disgenet.org/resource/nanopub/NP1024538.RAJ-meKjQ4YLPVCaFAOXM64LDtOtdvmUaRrsIZGuKOQeg http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1024538.RAJ-meKjQ4YLPVCaFAOXM64LDtOtdvmUaRrsIZGuKOQeg http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1024538.RAJ-meKjQ4YLPVCaFAOXM64LDtOtdvmUaRrsIZGuKOQeg http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1024538.RAJ-meKjQ4YLPVCaFAOXM64LDtOtdvmUaRrsIZGuKOQeg http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1024538.RAJ-meKjQ4YLPVCaFAOXM64LDtOtdvmUaRrsIZGuKOQeg http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1024538.RAJ-meKjQ4YLPVCaFAOXM64LDtOtdvmUaRrsIZGuKOQeg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1024538.RAJ-meKjQ4YLPVCaFAOXM64LDtOtdvmUaRrsIZGuKOQeg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1024538.RAJ-meKjQ4YLPVCaFAOXM64LDtOtdvmUaRrsIZGuKOQeg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1024538.RAJ-meKjQ4YLPVCaFAOXM64LDtOtdvmUaRrsIZGuKOQeg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1024538.RAJ-meKjQ4YLPVCaFAOXM64LDtOtdvmUaRrsIZGuKOQeg http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1024538.RAJ-meKjQ4YLPVCaFAOXM64LDtOtdvmUaRrsIZGuKOQeg http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0