http://rdf.disgenet.org/resource/nanopub/NP1261860.RAkmrP_XCa1ech2AbXWwnqHyxKr3xzDG-Jl9BVvyDbDA4130_head http://rdf.disgenet.org/resource/nanopub/NP1261860.RAkmrP_XCa1ech2AbXWwnqHyxKr3xzDG-Jl9BVvyDbDA4 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1261860.RAkmrP_XCa1ech2AbXWwnqHyxKr3xzDG-Jl9BVvyDbDA4130_assertion http://rdf.disgenet.org/resource/nanopub/NP1261860.RAkmrP_XCa1ech2AbXWwnqHyxKr3xzDG-Jl9BVvyDbDA4 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1261860.RAkmrP_XCa1ech2AbXWwnqHyxKr3xzDG-Jl9BVvyDbDA4130_provenance http://rdf.disgenet.org/resource/nanopub/NP1261860.RAkmrP_XCa1ech2AbXWwnqHyxKr3xzDG-Jl9BVvyDbDA4 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1261860.RAkmrP_XCa1ech2AbXWwnqHyxKr3xzDG-Jl9BVvyDbDA4130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1261860.RAkmrP_XCa1ech2AbXWwnqHyxKr3xzDG-Jl9BVvyDbDA4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1261860.RAkmrP_XCa1ech2AbXWwnqHyxKr3xzDG-Jl9BVvyDbDA4130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1261860.RAkmrP_XCa1ech2AbXWwnqHyxKr3xzDG-Jl9BVvyDbDA4130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1261860.RAkmrP_XCa1ech2AbXWwnqHyxKr3xzDG-Jl9BVvyDbDA4130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1261860.RAkmrP_XCa1ech2AbXWwnqHyxKr3xzDG-Jl9BVvyDbDA4130_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/C0007795 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/DGNb7eeea394db1763b52577a912678ed5c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5428 http://rdf.disgenet.org/resource/gda/DGNb7eeea394db1763b52577a912678ed5c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0007795 http://rdf.disgenet.org/resource/gda/DGNb7eeea394db1763b52577a912678ed5c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1261860.RAkmrP_XCa1ech2AbXWwnqHyxKr3xzDG-Jl9BVvyDbDA4130_provenance http://rdf.disgenet.org/resource/nanopub/NP1261860.RAkmrP_XCa1ech2AbXWwnqHyxKr3xzDG-Jl9BVvyDbDA4130_assertion http://purl.org/dc/terms/description [Mutations in the polymerase gamma-1 (POLG1) gene, encoding the catalytic subunit of the mtDNA-specific polymerase-γ, compromise the stability of mitochondrial DNA (mtDNA) and are responsible for numerous clinical presentations as autosomal dominant or recessive progressive external ophthalmoplegia (PEO), sensory ataxia, neuropathy, dysarthria and ophthalmoparesis (SANDO), spinocerebellar ataxia with epilepsy (SCAE) and Alpers syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1261860.RAkmrP_XCa1ech2AbXWwnqHyxKr3xzDG-Jl9BVvyDbDA4130_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/NP1261860.RAkmrP_XCa1ech2AbXWwnqHyxKr3xzDG-Jl9BVvyDbDA4130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/25660390 http://rdf.disgenet.org/resource/nanopub/NP1261860.RAkmrP_XCa1ech2AbXWwnqHyxKr3xzDG-Jl9BVvyDbDA4130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1261860.RAkmrP_XCa1ech2AbXWwnqHyxKr3xzDG-Jl9BVvyDbDA4130_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/NP1261860.RAkmrP_XCa1ech2AbXWwnqHyxKr3xzDG-Jl9BVvyDbDA4130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1261860.RAkmrP_XCa1ech2AbXWwnqHyxKr3xzDG-Jl9BVvyDbDA4 http://purl.org/dc/terms/created 2016-05-13T12:51:18+02:00 http://rdf.disgenet.org/resource/nanopub/NP1261860.RAkmrP_XCa1ech2AbXWwnqHyxKr3xzDG-Jl9BVvyDbDA4 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1261860.RAkmrP_XCa1ech2AbXWwnqHyxKr3xzDG-Jl9BVvyDbDA4 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1261860.RAkmrP_XCa1ech2AbXWwnqHyxKr3xzDG-Jl9BVvyDbDA4 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1261860.RAkmrP_XCa1ech2AbXWwnqHyxKr3xzDG-Jl9BVvyDbDA4 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1261860.RAkmrP_XCa1ech2AbXWwnqHyxKr3xzDG-Jl9BVvyDbDA4 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1261860.RAkmrP_XCa1ech2AbXWwnqHyxKr3xzDG-Jl9BVvyDbDA4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1261860.RAkmrP_XCa1ech2AbXWwnqHyxKr3xzDG-Jl9BVvyDbDA4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1261860.RAkmrP_XCa1ech2AbXWwnqHyxKr3xzDG-Jl9BVvyDbDA4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1261860.RAkmrP_XCa1ech2AbXWwnqHyxKr3xzDG-Jl9BVvyDbDA4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1261860.RAkmrP_XCa1ech2AbXWwnqHyxKr3xzDG-Jl9BVvyDbDA4 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1261860.RAkmrP_XCa1ech2AbXWwnqHyxKr3xzDG-Jl9BVvyDbDA4 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