@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP796305.RAdptXsL1QgUvfGJ_YIqv_vEExMuzbjwOLaTS7ShnNVUM> .
@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:NP796305.RAdptXsL1QgUvfGJ_YIqv_vEExMuzbjwOLaTS7ShnNVUM130_head {
  this: np:hasAssertion dgn-np:NP796305.RAdptXsL1QgUvfGJ_YIqv_vEExMuzbjwOLaTS7ShnNVUM130_assertion;
    np:hasProvenance dgn-np:NP796305.RAdptXsL1QgUvfGJ_YIqv_vEExMuzbjwOLaTS7ShnNVUM130_provenance;
    np:hasPublicationInfo dgn-np:NP796305.RAdptXsL1QgUvfGJ_YIqv_vEExMuzbjwOLaTS7ShnNVUM130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP796305.RAdptXsL1QgUvfGJ_YIqv_vEExMuzbjwOLaTS7ShnNVUM130_assertion a np:Assertion .
  
  dgn-np:NP796305.RAdptXsL1QgUvfGJ_YIqv_vEExMuzbjwOLaTS7ShnNVUM130_provenance a np:Provenance .
  
  dgn-np:NP796305.RAdptXsL1QgUvfGJ_YIqv_vEExMuzbjwOLaTS7ShnNVUM130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP796305.RAdptXsL1QgUvfGJ_YIqv_vEExMuzbjwOLaTS7ShnNVUM130_assertion {
  miriam-gene:54704 a ncit:C16612 .
  
  lld:C0034345 a ncit:C7057 .
  
  dgn-gda:DGN7ec8b0580855a926b01c08b4516328a9 sio:SIO_000628 miriam-gene:54704, lld:C0034345;
    a sio:SIO_001121 .
}

dgn-np:NP796305.RAdptXsL1QgUvfGJ_YIqv_vEExMuzbjwOLaTS7ShnNVUM130_provenance {
  dgn-np:NP796305.RAdptXsL1QgUvfGJ_YIqv_vEExMuzbjwOLaTS7ShnNVUM130_assertion dcterms:description
      "[Mutations in this codon have now been found in nine patients with pyruvate dehydrogenase deficiency in seven unrelated families, in sharp contrast to the great majority of other PDH E1alpha mutations which have been described in single individuals only.]. 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:9671272;
    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:NP796305.RAdptXsL1QgUvfGJ_YIqv_vEExMuzbjwOLaTS7ShnNVUM130_publicationInfo {
  this: dcterms:created "2014-10-02T12:40:09+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" .
}