http://rdf.disgenet.org/resource/nanopub/NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4130_head http://rdf.disgenet.org/resource/nanopub/NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4130_assertion http://rdf.disgenet.org/resource/nanopub/NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4130_provenance http://rdf.disgenet.org/resource/nanopub/NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4130_assertion http://identifiers.org/ncbigene/56652 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/C0162674 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/DGN73f1be3d375aedd43da7a2520003e2f6 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/56652 http://rdf.disgenet.org/resource/gda/DGN73f1be3d375aedd43da7a2520003e2f6 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0162674 http://rdf.disgenet.org/resource/gda/DGN73f1be3d375aedd43da7a2520003e2f6 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4130_provenance http://rdf.disgenet.org/resource/nanopub/NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4130_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/NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4130_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/NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/18195150 http://rdf.disgenet.org/resource/nanopub/NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4130_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/NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4 http://purl.org/dc/terms/created 2016-05-13T12:46:40+02:00 http://rdf.disgenet.org/resource/nanopub/NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4 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