http://rdf.disgenet.org/resource/nanopub/NP44716.RAkqieInfJCvMZiiSVdEHvgbYtDSPMzr4kpFWTAa0ESvw#head http://rdf.disgenet.org/resource/nanopub/NP44716.RAkqieInfJCvMZiiSVdEHvgbYtDSPMzr4kpFWTAa0ESvw http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP44716.RAkqieInfJCvMZiiSVdEHvgbYtDSPMzr4kpFWTAa0ESvw#assertion http://rdf.disgenet.org/resource/nanopub/NP44716.RAkqieInfJCvMZiiSVdEHvgbYtDSPMzr4kpFWTAa0ESvw http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP44716.RAkqieInfJCvMZiiSVdEHvgbYtDSPMzr4kpFWTAa0ESvw#provenance http://rdf.disgenet.org/resource/nanopub/NP44716.RAkqieInfJCvMZiiSVdEHvgbYtDSPMzr4kpFWTAa0ESvw http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP44716.RAkqieInfJCvMZiiSVdEHvgbYtDSPMzr4kpFWTAa0ESvw#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP44716.RAkqieInfJCvMZiiSVdEHvgbYtDSPMzr4kpFWTAa0ESvw http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP44716.RAkqieInfJCvMZiiSVdEHvgbYtDSPMzr4kpFWTAa0ESvw#assertion http://rdf.disgenet.org/resource/gda/DGN80b9a1f9d9ee94d7b6b86a0d9a92c2ac http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/291 http://rdf.disgenet.org/resource/gda/DGN80b9a1f9d9ee94d7b6b86a0d9a92c2ac http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0162674 http://rdf.disgenet.org/resource/gda/DGN80b9a1f9d9ee94d7b6b86a0d9a92c2ac http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP44716.RAkqieInfJCvMZiiSVdEHvgbYtDSPMzr4kpFWTAa0ESvw#provenance http://rdf.disgenet.org/resource/nanopub/NP44716.RAkqieInfJCvMZiiSVdEHvgbYtDSPMzr4kpFWTAa0ESvw#assertion http://purl.org/dc/terms/description [The results of screening for mutations in the nuclear genes associated with PEO and multiple mitochondrial DNA deletions, including those in POLG (polymerase gamma gene), ANT1 (gene encoding adenine nucleotide translocator 1), and PEO1, were negative, but sequencing of POLG2 revealed a G1247C mutation in exon 7, resulting in the substitution of a highly conserved glycine with an alanine at codon 416 (G416A).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP44716.RAkqieInfJCvMZiiSVdEHvgbYtDSPMzr4kpFWTAa0ESvw#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/NP44716.RAkqieInfJCvMZiiSVdEHvgbYtDSPMzr4kpFWTAa0ESvw#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/18195150 http://rdf.disgenet.org/resource/nanopub/NP44716.RAkqieInfJCvMZiiSVdEHvgbYtDSPMzr4kpFWTAa0ESvw#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP44716.RAkqieInfJCvMZiiSVdEHvgbYtDSPMzr4kpFWTAa0ESvw#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/NP44716.RAkqieInfJCvMZiiSVdEHvgbYtDSPMzr4kpFWTAa0ESvw#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP44716.RAkqieInfJCvMZiiSVdEHvgbYtDSPMzr4kpFWTAa0ESvw http://purl.org/dc/terms/created 2017-10-17T13:10:28+02:00 http://rdf.disgenet.org/resource/nanopub/NP44716.RAkqieInfJCvMZiiSVdEHvgbYtDSPMzr4kpFWTAa0ESvw http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP44716.RAkqieInfJCvMZiiSVdEHvgbYtDSPMzr4kpFWTAa0ESvw http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP44716.RAkqieInfJCvMZiiSVdEHvgbYtDSPMzr4kpFWTAa0ESvw http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP44716.RAkqieInfJCvMZiiSVdEHvgbYtDSPMzr4kpFWTAa0ESvw http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP44716.RAkqieInfJCvMZiiSVdEHvgbYtDSPMzr4kpFWTAa0ESvw http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP44716.RAkqieInfJCvMZiiSVdEHvgbYtDSPMzr4kpFWTAa0ESvw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP44716.RAkqieInfJCvMZiiSVdEHvgbYtDSPMzr4kpFWTAa0ESvw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP44716.RAkqieInfJCvMZiiSVdEHvgbYtDSPMzr4kpFWTAa0ESvw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP44716.RAkqieInfJCvMZiiSVdEHvgbYtDSPMzr4kpFWTAa0ESvw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP44716.RAkqieInfJCvMZiiSVdEHvgbYtDSPMzr4kpFWTAa0ESvw http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP44716.RAkqieInfJCvMZiiSVdEHvgbYtDSPMzr4kpFWTAa0ESvw 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