http://rdf.disgenet.org/resource/nanopub/NP1261865.RAUBTE12an_-9AZwa3GCplE-utl_ol1Z-vXS4bMGh4zBU130_head
http://rdf.disgenet.org/resource/nanopub/NP1261865.RAUBTE12an_-9AZwa3GCplE-utl_ol1Z-vXS4bMGh4zBU
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1261865.RAUBTE12an_-9AZwa3GCplE-utl_ol1Z-vXS4bMGh4zBU130_assertion
http://rdf.disgenet.org/resource/nanopub/NP1261865.RAUBTE12an_-9AZwa3GCplE-utl_ol1Z-vXS4bMGh4zBU
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1261865.RAUBTE12an_-9AZwa3GCplE-utl_ol1Z-vXS4bMGh4zBU130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1261865.RAUBTE12an_-9AZwa3GCplE-utl_ol1Z-vXS4bMGh4zBU
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1261865.RAUBTE12an_-9AZwa3GCplE-utl_ol1Z-vXS4bMGh4zBU130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1261865.RAUBTE12an_-9AZwa3GCplE-utl_ol1Z-vXS4bMGh4zBU
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1261865.RAUBTE12an_-9AZwa3GCplE-utl_ol1Z-vXS4bMGh4zBU130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP1261865.RAUBTE12an_-9AZwa3GCplE-utl_ol1Z-vXS4bMGh4zBU130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP1261865.RAUBTE12an_-9AZwa3GCplE-utl_ol1Z-vXS4bMGh4zBU130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1261865.RAUBTE12an_-9AZwa3GCplE-utl_ol1Z-vXS4bMGh4zBU130_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/C1843852
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/DGN888b2e6cdf68df80553005eb3d67e201
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/5428
http://rdf.disgenet.org/resource/gda/DGN888b2e6cdf68df80553005eb3d67e201
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C1843852
http://rdf.disgenet.org/resource/gda/DGN888b2e6cdf68df80553005eb3d67e201
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP1261865.RAUBTE12an_-9AZwa3GCplE-utl_ol1Z-vXS4bMGh4zBU130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1261865.RAUBTE12an_-9AZwa3GCplE-utl_ol1Z-vXS4bMGh4zBU130_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/NP1261865.RAUBTE12an_-9AZwa3GCplE-utl_ol1Z-vXS4bMGh4zBU130_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/NP1261865.RAUBTE12an_-9AZwa3GCplE-utl_ol1Z-vXS4bMGh4zBU130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/25660390
http://rdf.disgenet.org/resource/nanopub/NP1261865.RAUBTE12an_-9AZwa3GCplE-utl_ol1Z-vXS4bMGh4zBU130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP1261865.RAUBTE12an_-9AZwa3GCplE-utl_ol1Z-vXS4bMGh4zBU130_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/NP1261865.RAUBTE12an_-9AZwa3GCplE-utl_ol1Z-vXS4bMGh4zBU130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1261865.RAUBTE12an_-9AZwa3GCplE-utl_ol1Z-vXS4bMGh4zBU
http://purl.org/dc/terms/created
2016-05-13T12:51:18+02:00
http://rdf.disgenet.org/resource/nanopub/NP1261865.RAUBTE12an_-9AZwa3GCplE-utl_ol1Z-vXS4bMGh4zBU
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1261865.RAUBTE12an_-9AZwa3GCplE-utl_ol1Z-vXS4bMGh4zBU
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1261865.RAUBTE12an_-9AZwa3GCplE-utl_ol1Z-vXS4bMGh4zBU
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1261865.RAUBTE12an_-9AZwa3GCplE-utl_ol1Z-vXS4bMGh4zBU
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1261865.RAUBTE12an_-9AZwa3GCplE-utl_ol1Z-vXS4bMGh4zBU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1261865.RAUBTE12an_-9AZwa3GCplE-utl_ol1Z-vXS4bMGh4zBU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1261865.RAUBTE12an_-9AZwa3GCplE-utl_ol1Z-vXS4bMGh4zBU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1261865.RAUBTE12an_-9AZwa3GCplE-utl_ol1Z-vXS4bMGh4zBU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1261865.RAUBTE12an_-9AZwa3GCplE-utl_ol1Z-vXS4bMGh4zBU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1261865.RAUBTE12an_-9AZwa3GCplE-utl_ol1Z-vXS4bMGh4zBU
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1261865.RAUBTE12an_-9AZwa3GCplE-utl_ol1Z-vXS4bMGh4zBU
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