http://rdf.disgenet.org/nanopublications.trig#NP763925.RAh_qKFv1nNzMKEilEr0hNDgvYfSCFqXM3Jokk0-afQCc130_head http://rdf.disgenet.org/nanopublications.trig#NP763925.RAh_qKFv1nNzMKEilEr0hNDgvYfSCFqXM3Jokk0-afQCc http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP763925.RAh_qKFv1nNzMKEilEr0hNDgvYfSCFqXM3Jokk0-afQCc130_assertion http://rdf.disgenet.org/nanopublications.trig#NP763925.RAh_qKFv1nNzMKEilEr0hNDgvYfSCFqXM3Jokk0-afQCc http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP763925.RAh_qKFv1nNzMKEilEr0hNDgvYfSCFqXM3Jokk0-afQCc130_provenance http://rdf.disgenet.org/nanopublications.trig#NP763925.RAh_qKFv1nNzMKEilEr0hNDgvYfSCFqXM3Jokk0-afQCc http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP763925.RAh_qKFv1nNzMKEilEr0hNDgvYfSCFqXM3Jokk0-afQCc130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP763925.RAh_qKFv1nNzMKEilEr0hNDgvYfSCFqXM3Jokk0-afQCc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP763925.RAh_qKFv1nNzMKEilEr0hNDgvYfSCFqXM3Jokk0-afQCc130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP763925.RAh_qKFv1nNzMKEilEr0hNDgvYfSCFqXM3Jokk0-afQCc130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP763925.RAh_qKFv1nNzMKEilEr0hNDgvYfSCFqXM3Jokk0-afQCc130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP763925.RAh_qKFv1nNzMKEilEr0hNDgvYfSCFqXM3Jokk0-afQCc130_assertion http://identifiers.org/ncbigene/50484 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/gene-disease-association.ttl#DGN5e2b37eaeaa81184ee00ea0c767774c8 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/50484 http://rdf.disgenet.org/gene-disease-association.ttl#DGN5e2b37eaeaa81184ee00ea0c767774c8 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0751651 http://rdf.disgenet.org/gene-disease-association.ttl#DGN5e2b37eaeaa81184ee00ea0c767774c8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP763925.RAh_qKFv1nNzMKEilEr0hNDgvYfSCFqXM3Jokk0-afQCc130_provenance http://rdf.disgenet.org/nanopublications.trig#NP763925.RAh_qKFv1nNzMKEilEr0hNDgvYfSCFqXM3Jokk0-afQCc130_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/nanopublications.trig#NP763925.RAh_qKFv1nNzMKEilEr0hNDgvYfSCFqXM3Jokk0-afQCc130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP763925.RAh_qKFv1nNzMKEilEr0hNDgvYfSCFqXM3Jokk0-afQCc130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23107649 http://rdf.disgenet.org/nanopublications.trig#NP763925.RAh_qKFv1nNzMKEilEr0hNDgvYfSCFqXM3Jokk0-afQCc130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP763925.RAh_qKFv1nNzMKEilEr0hNDgvYfSCFqXM3Jokk0-afQCc130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP763925.RAh_qKFv1nNzMKEilEr0hNDgvYfSCFqXM3Jokk0-afQCc130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP763925.RAh_qKFv1nNzMKEilEr0hNDgvYfSCFqXM3Jokk0-afQCc http://purl.org/dc/terms/created 2014-10-02T12:39:42+02:00 http://rdf.disgenet.org/nanopublications.trig#NP763925.RAh_qKFv1nNzMKEilEr0hNDgvYfSCFqXM3Jokk0-afQCc http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP763925.RAh_qKFv1nNzMKEilEr0hNDgvYfSCFqXM3Jokk0-afQCc http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP763925.RAh_qKFv1nNzMKEilEr0hNDgvYfSCFqXM3Jokk0-afQCc http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP763925.RAh_qKFv1nNzMKEilEr0hNDgvYfSCFqXM3Jokk0-afQCc http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP763925.RAh_qKFv1nNzMKEilEr0hNDgvYfSCFqXM3Jokk0-afQCc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP763925.RAh_qKFv1nNzMKEilEr0hNDgvYfSCFqXM3Jokk0-afQCc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP763925.RAh_qKFv1nNzMKEilEr0hNDgvYfSCFqXM3Jokk0-afQCc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP763925.RAh_qKFv1nNzMKEilEr0hNDgvYfSCFqXM3Jokk0-afQCc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP763925.RAh_qKFv1nNzMKEilEr0hNDgvYfSCFqXM3Jokk0-afQCc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP763925.RAh_qKFv1nNzMKEilEr0hNDgvYfSCFqXM3Jokk0-afQCc http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP763925.RAh_qKFv1nNzMKEilEr0hNDgvYfSCFqXM3Jokk0-afQCc http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0