http://rdf.disgenet.org/nanopublications.trig#NP764827.RAPjdosp8wi-EFCabopSmKxng1EMAczYcFlTDzWluSACE130_head http://rdf.disgenet.org/nanopublications.trig#NP764827.RAPjdosp8wi-EFCabopSmKxng1EMAczYcFlTDzWluSACE http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP764827.RAPjdosp8wi-EFCabopSmKxng1EMAczYcFlTDzWluSACE130_assertion http://rdf.disgenet.org/nanopublications.trig#NP764827.RAPjdosp8wi-EFCabopSmKxng1EMAczYcFlTDzWluSACE http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP764827.RAPjdosp8wi-EFCabopSmKxng1EMAczYcFlTDzWluSACE130_provenance http://rdf.disgenet.org/nanopublications.trig#NP764827.RAPjdosp8wi-EFCabopSmKxng1EMAczYcFlTDzWluSACE http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP764827.RAPjdosp8wi-EFCabopSmKxng1EMAczYcFlTDzWluSACE130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP764827.RAPjdosp8wi-EFCabopSmKxng1EMAczYcFlTDzWluSACE http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP764827.RAPjdosp8wi-EFCabopSmKxng1EMAczYcFlTDzWluSACE130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP764827.RAPjdosp8wi-EFCabopSmKxng1EMAczYcFlTDzWluSACE130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP764827.RAPjdosp8wi-EFCabopSmKxng1EMAczYcFlTDzWluSACE130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP764827.RAPjdosp8wi-EFCabopSmKxng1EMAczYcFlTDzWluSACE130_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/C1096063 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/gene-disease-association.ttl#DGN61a79153d8d8dbfc5b1879071bb47c1f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5428 http://rdf.disgenet.org/gene-disease-association.ttl#DGN61a79153d8d8dbfc5b1879071bb47c1f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1096063 http://rdf.disgenet.org/gene-disease-association.ttl#DGN61a79153d8d8dbfc5b1879071bb47c1f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP764827.RAPjdosp8wi-EFCabopSmKxng1EMAczYcFlTDzWluSACE130_provenance http://rdf.disgenet.org/nanopublications.trig#NP764827.RAPjdosp8wi-EFCabopSmKxng1EMAczYcFlTDzWluSACE130_assertion http://purl.org/dc/terms/description [This POLG1 mutation phenotype is characterized by refractory epilepsy with recurrent status epilepticus and episodes of epilepsia partialis continua, which often necessitate admission to the intensive care unit (ICU) and pose an important mortality risk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP764827.RAPjdosp8wi-EFCabopSmKxng1EMAczYcFlTDzWluSACE130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP764827.RAPjdosp8wi-EFCabopSmKxng1EMAczYcFlTDzWluSACE130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20803213 http://rdf.disgenet.org/nanopublications.trig#NP764827.RAPjdosp8wi-EFCabopSmKxng1EMAczYcFlTDzWluSACE130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP764827.RAPjdosp8wi-EFCabopSmKxng1EMAczYcFlTDzWluSACE130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP764827.RAPjdosp8wi-EFCabopSmKxng1EMAczYcFlTDzWluSACE130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP764827.RAPjdosp8wi-EFCabopSmKxng1EMAczYcFlTDzWluSACE http://purl.org/dc/terms/created 2014-10-02T12:39:43+02:00 http://rdf.disgenet.org/nanopublications.trig#NP764827.RAPjdosp8wi-EFCabopSmKxng1EMAczYcFlTDzWluSACE http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP764827.RAPjdosp8wi-EFCabopSmKxng1EMAczYcFlTDzWluSACE http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP764827.RAPjdosp8wi-EFCabopSmKxng1EMAczYcFlTDzWluSACE http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP764827.RAPjdosp8wi-EFCabopSmKxng1EMAczYcFlTDzWluSACE http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP764827.RAPjdosp8wi-EFCabopSmKxng1EMAczYcFlTDzWluSACE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP764827.RAPjdosp8wi-EFCabopSmKxng1EMAczYcFlTDzWluSACE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP764827.RAPjdosp8wi-EFCabopSmKxng1EMAczYcFlTDzWluSACE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP764827.RAPjdosp8wi-EFCabopSmKxng1EMAczYcFlTDzWluSACE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP764827.RAPjdosp8wi-EFCabopSmKxng1EMAczYcFlTDzWluSACE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP764827.RAPjdosp8wi-EFCabopSmKxng1EMAczYcFlTDzWluSACE http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP764827.RAPjdosp8wi-EFCabopSmKxng1EMAczYcFlTDzWluSACE http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0