http://rdf.disgenet.org/resource/nanopub/NP837015.RAhFJIzzldEyuaJwgXUF8i70oZUGVB4bW8D6omSWrTH-0#head http://rdf.disgenet.org/resource/nanopub/NP837015.RAhFJIzzldEyuaJwgXUF8i70oZUGVB4bW8D6omSWrTH-0 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP837015.RAhFJIzzldEyuaJwgXUF8i70oZUGVB4bW8D6omSWrTH-0#assertion http://rdf.disgenet.org/resource/nanopub/NP837015.RAhFJIzzldEyuaJwgXUF8i70oZUGVB4bW8D6omSWrTH-0 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP837015.RAhFJIzzldEyuaJwgXUF8i70oZUGVB4bW8D6omSWrTH-0#provenance http://rdf.disgenet.org/resource/nanopub/NP837015.RAhFJIzzldEyuaJwgXUF8i70oZUGVB4bW8D6omSWrTH-0 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP837015.RAhFJIzzldEyuaJwgXUF8i70oZUGVB4bW8D6omSWrTH-0#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP837015.RAhFJIzzldEyuaJwgXUF8i70oZUGVB4bW8D6omSWrTH-0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP837015.RAhFJIzzldEyuaJwgXUF8i70oZUGVB4bW8D6omSWrTH-0#assertion http://rdf.disgenet.org/resource/gda/DGN3d061fed89f9641fbc1ae60e1e3043e9 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5428 http://rdf.disgenet.org/resource/gda/DGN3d061fed89f9641fbc1ae60e1e3043e9 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0240991 http://rdf.disgenet.org/resource/gda/DGN3d061fed89f9641fbc1ae60e1e3043e9 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP837015.RAhFJIzzldEyuaJwgXUF8i70oZUGVB4bW8D6omSWrTH-0#provenance http://rdf.disgenet.org/resource/nanopub/NP837015.RAhFJIzzldEyuaJwgXUF8i70oZUGVB4bW8D6omSWrTH-0#assertion http://purl.org/dc/terms/description [Mutations in the polymerase gamma-1 (POLG1) gene, encoding the catalytic subunit of the mtDNA-specific polymerase-?, 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/NP837015.RAhFJIzzldEyuaJwgXUF8i70oZUGVB4bW8D6omSWrTH-0#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/NP837015.RAhFJIzzldEyuaJwgXUF8i70oZUGVB4bW8D6omSWrTH-0#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/25660390 http://rdf.disgenet.org/resource/nanopub/NP837015.RAhFJIzzldEyuaJwgXUF8i70oZUGVB4bW8D6omSWrTH-0#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP837015.RAhFJIzzldEyuaJwgXUF8i70oZUGVB4bW8D6omSWrTH-0#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/NP837015.RAhFJIzzldEyuaJwgXUF8i70oZUGVB4bW8D6omSWrTH-0#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP837015.RAhFJIzzldEyuaJwgXUF8i70oZUGVB4bW8D6omSWrTH-0 http://purl.org/dc/terms/created 2017-10-17T13:15:31+02:00 http://rdf.disgenet.org/resource/nanopub/NP837015.RAhFJIzzldEyuaJwgXUF8i70oZUGVB4bW8D6omSWrTH-0 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP837015.RAhFJIzzldEyuaJwgXUF8i70oZUGVB4bW8D6omSWrTH-0 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP837015.RAhFJIzzldEyuaJwgXUF8i70oZUGVB4bW8D6omSWrTH-0 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP837015.RAhFJIzzldEyuaJwgXUF8i70oZUGVB4bW8D6omSWrTH-0 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP837015.RAhFJIzzldEyuaJwgXUF8i70oZUGVB4bW8D6omSWrTH-0 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP837015.RAhFJIzzldEyuaJwgXUF8i70oZUGVB4bW8D6omSWrTH-0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP837015.RAhFJIzzldEyuaJwgXUF8i70oZUGVB4bW8D6omSWrTH-0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP837015.RAhFJIzzldEyuaJwgXUF8i70oZUGVB4bW8D6omSWrTH-0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP837015.RAhFJIzzldEyuaJwgXUF8i70oZUGVB4bW8D6omSWrTH-0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP837015.RAhFJIzzldEyuaJwgXUF8i70oZUGVB4bW8D6omSWrTH-0 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP837015.RAhFJIzzldEyuaJwgXUF8i70oZUGVB4bW8D6omSWrTH-0 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