@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
@prefix sio: <http://semanticscience.org/resource/> .
@prefix ncit: <http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#> .
@prefix lld: <http://linkedlifedata.com/resource/umls/id/> .
@prefix miriam-gene: <http://identifiers.org/ncbigene/> .
@prefix miriam-pubmed: <http://identifiers.org/pubmed/> .
@prefix eco: <http://purl.obolibrary.org/obo/eco.owl#> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/2.0/> .
@prefix prv: <http://purl.org/net/provenance/ns#> .
@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix np: <http://www.nanopub.org/nschema#> .
@prefix dgn-np: <http://rdf.disgenet.org/nanopublications.trig#> .
@prefix dgn-gda: <http://rdf.disgenet.org/gene-disease-association.ttl#> .
@prefix dgn-void: <http://rdf.disgenet.org/v2.1.0/void.ttl#> .
dgn-np:NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM130_head {
  this: np:hasAssertion dgn-np:NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM130_assertion ;
    np:hasProvenance dgn-np:NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM130_provenance ;
    np:hasPublicationInfo dgn-np:NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM130_assertion a np:Assertion .
  dgn-np:NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM130_provenance a np:Provenance .
  dgn-np:NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM130_assertion {
  miriam-gene:5428 a ncit:C16612 .
  lld:C0543888 a ncit:C7057 .
  dgn-gda:DGNbe8e5b1432f1d56a8e20f1048c6ae702 sio:SIO_000628 miriam-gene:5428 , lld:C0543888 ;
    a sio:SIO_001121 .
}
dgn-np:NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM130_provenance {
  dgn-np:NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM130_assertion dcterms: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."@en ;
    wi:evidence dgn-void:source_evidence_literature ;
    sio:SIO_000772 miriam-pubmed:21357833 ;
    prov:wasDerivedFrom dgn-void:befree-20140225 ;
    prov:wasGeneratedBy eco:ECO_0000203 .
  dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^xsd:date .
  dgn-void:source_evidence_literature a eco:ECO_0000212 ;
    rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en ;
    rdfs:label "DisGeNET evidence - LITERATURE"@en .
}
dgn-np:NP626504.RAAtyuCnSO8DF2SnFraMYoO5u_q1dJJIvpgmQ--hrCqxM130_publicationInfo {
  this: dcterms:created "2014-10-02T12:38:18+02:00"^^xsd:dateTime ;
    dcterms:rights <http://opendatacommons.org/licenses/odbl/1.0/> ;
    dcterms:rightsHolder dgn-void:IBIGroup ;
    dcterms:subject sio:SIO_000983 ;
    prv:usedData dgn-void:disgenetrdf ;
    pav:authoredBy <http://orcid.org/0000-0001-5999-6269> , <http://orcid.org/0000-0002-7534-7661> , <http://orcid.org/0000-0002-9383-528X> , <http://orcid.org/0000-0003-0169-8159> , <http://orcid.org/0000-0003-1244-7654> ;
    pav:createdBy <http://orcid.org/0000-0003-0169-8159> ;
    pav:version "v2.1.0.0" .
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}