@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP240551.RAbAF0Uj5NWUA3LtD_nkFtseXEtBLa1a5XFSY51jCfSsU> .
@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:NP240551.RAbAF0Uj5NWUA3LtD_nkFtseXEtBLa1a5XFSY51jCfSsU130_head {
  this: np:hasAssertion dgn-np:NP240551.RAbAF0Uj5NWUA3LtD_nkFtseXEtBLa1a5XFSY51jCfSsU130_assertion;
    np:hasProvenance dgn-np:NP240551.RAbAF0Uj5NWUA3LtD_nkFtseXEtBLa1a5XFSY51jCfSsU130_provenance;
    np:hasPublicationInfo dgn-np:NP240551.RAbAF0Uj5NWUA3LtD_nkFtseXEtBLa1a5XFSY51jCfSsU130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP240551.RAbAF0Uj5NWUA3LtD_nkFtseXEtBLa1a5XFSY51jCfSsU130_assertion a np:Assertion .
  
  dgn-np:NP240551.RAbAF0Uj5NWUA3LtD_nkFtseXEtBLa1a5XFSY51jCfSsU130_provenance a np:Provenance .
  
  dgn-np:NP240551.RAbAF0Uj5NWUA3LtD_nkFtseXEtBLa1a5XFSY51jCfSsU130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP240551.RAbAF0Uj5NWUA3LtD_nkFtseXEtBLa1a5XFSY51jCfSsU130_assertion {
  miriam-gene:1376 a ncit:C16612 .
  
  lld:C0238463 a ncit:C7057 .
  
  dgn-gda:DGNa7f5ad914603fd64c0716f6aba3a796a sio:SIO_000628 miriam-gene:1376, lld:C0238463;
    a sio:SIO_001121 .
}

dgn-np:NP240551.RAbAF0Uj5NWUA3LtD_nkFtseXEtBLa1a5XFSY51jCfSsU130_provenance {
  dgn-np:NP240551.RAbAF0Uj5NWUA3LtD_nkFtseXEtBLa1a5XFSY51jCfSsU130_assertion dcterms:description
      "[Our study demonstrated that after both PTC 124 and gentamicin treatment, there was an increase in CPT1 activity in patient fibroblasts to levels that are similar to that of the mild Inuit P479L variant.]. 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:21253826;
    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:NP240551.RAbAF0Uj5NWUA3LtD_nkFtseXEtBLa1a5XFSY51jCfSsU130_publicationInfo {
  this: dcterms:created "2014-10-02T12:34:14+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" .
}