http://rdf.disgenet.org/resource/nanopub/NP836559.RALKxhJID0OwOrQ1w11cVNQhthahAnD1eC_IER3zsZP_Y#head
http://rdf.disgenet.org/resource/nanopub/NP836559.RALKxhJID0OwOrQ1w11cVNQhthahAnD1eC_IER3zsZP_Y
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP836559.RALKxhJID0OwOrQ1w11cVNQhthahAnD1eC_IER3zsZP_Y#assertion
http://rdf.disgenet.org/resource/nanopub/NP836559.RALKxhJID0OwOrQ1w11cVNQhthahAnD1eC_IER3zsZP_Y
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP836559.RALKxhJID0OwOrQ1w11cVNQhthahAnD1eC_IER3zsZP_Y#provenance
http://rdf.disgenet.org/resource/nanopub/NP836559.RALKxhJID0OwOrQ1w11cVNQhthahAnD1eC_IER3zsZP_Y
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP836559.RALKxhJID0OwOrQ1w11cVNQhthahAnD1eC_IER3zsZP_Y#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP836559.RALKxhJID0OwOrQ1w11cVNQhthahAnD1eC_IER3zsZP_Y
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP836559.RALKxhJID0OwOrQ1w11cVNQhthahAnD1eC_IER3zsZP_Y#assertion
http://rdf.disgenet.org/resource/gda/DGN2908846dfc981a0083abca3a129c3d0f
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/5428
http://rdf.disgenet.org/resource/gda/DGN2908846dfc981a0083abca3a129c3d0f
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C1843851
http://rdf.disgenet.org/resource/gda/DGN2908846dfc981a0083abca3a129c3d0f
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP836559.RALKxhJID0OwOrQ1w11cVNQhthahAnD1eC_IER3zsZP_Y#provenance
http://rdf.disgenet.org/resource/nanopub/NP836559.RALKxhJID0OwOrQ1w11cVNQhthahAnD1eC_IER3zsZP_Y#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/NP836559.RALKxhJID0OwOrQ1w11cVNQhthahAnD1eC_IER3zsZP_Y#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/NP836559.RALKxhJID0OwOrQ1w11cVNQhthahAnD1eC_IER3zsZP_Y#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/25660390
http://rdf.disgenet.org/resource/nanopub/NP836559.RALKxhJID0OwOrQ1w11cVNQhthahAnD1eC_IER3zsZP_Y#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP836559.RALKxhJID0OwOrQ1w11cVNQhthahAnD1eC_IER3zsZP_Y#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/NP836559.RALKxhJID0OwOrQ1w11cVNQhthahAnD1eC_IER3zsZP_Y#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP836559.RALKxhJID0OwOrQ1w11cVNQhthahAnD1eC_IER3zsZP_Y
http://purl.org/dc/terms/created
2017-10-17T13:15:31+02:00
http://rdf.disgenet.org/resource/nanopub/NP836559.RALKxhJID0OwOrQ1w11cVNQhthahAnD1eC_IER3zsZP_Y
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP836559.RALKxhJID0OwOrQ1w11cVNQhthahAnD1eC_IER3zsZP_Y
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP836559.RALKxhJID0OwOrQ1w11cVNQhthahAnD1eC_IER3zsZP_Y
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP836559.RALKxhJID0OwOrQ1w11cVNQhthahAnD1eC_IER3zsZP_Y
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP836559.RALKxhJID0OwOrQ1w11cVNQhthahAnD1eC_IER3zsZP_Y
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP836559.RALKxhJID0OwOrQ1w11cVNQhthahAnD1eC_IER3zsZP_Y
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP836559.RALKxhJID0OwOrQ1w11cVNQhthahAnD1eC_IER3zsZP_Y
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP836559.RALKxhJID0OwOrQ1w11cVNQhthahAnD1eC_IER3zsZP_Y
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP836559.RALKxhJID0OwOrQ1w11cVNQhthahAnD1eC_IER3zsZP_Y
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP836559.RALKxhJID0OwOrQ1w11cVNQhthahAnD1eC_IER3zsZP_Y
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP836559.RALKxhJID0OwOrQ1w11cVNQhthahAnD1eC_IER3zsZP_Y
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