http://rdf.disgenet.org/nanopublications.trig#NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM130_head http://rdf.disgenet.org/nanopublications.trig#NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM130_assertion http://rdf.disgenet.org/nanopublications.trig#NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM130_provenance http://rdf.disgenet.org/nanopublications.trig#NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM130_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/C0543888 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#DGNbe8e5b1432f1d56a8e20f1048c6ae702 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5428 http://rdf.disgenet.org/gene-disease-association.ttl#DGNbe8e5b1432f1d56a8e20f1048c6ae702 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0543888 http://rdf.disgenet.org/gene-disease-association.ttl#DGNbe8e5b1432f1d56a8e20f1048c6ae702 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM130_provenance http://rdf.disgenet.org/nanopublications.trig#NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM130_assertion http://purl.org/dc/terms/description [POLG1 analysis should belong to the first-line DNA diagnostic tests for children with an encephalitis-like presentation evolving into epileptic encephalopathy with liver involvement (Alpers syndrome), even if brain MRI and morphology, respiratory chain activities, and the amount of mitochondrial DNA in the skeletal muscle are normal.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM130_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#NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21357833 http://rdf.disgenet.org/nanopublications.trig#NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM130_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#NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM130_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#NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM http://purl.org/dc/terms/created 2014-10-02T12:38:18+02:00 http://rdf.disgenet.org/nanopublications.trig#NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM 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