@prefix dc: <http://purl.org/dc/terms/> .
@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP1950.RAJcIC0sH2JD7JcYE7C9m8fjDU-GpMG1zPAy22Zvj90AE> .
@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 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:NP1950.RAJcIC0sH2JD7JcYE7C9m8fjDU-GpMG1zPAy22Zvj90AE130_head {
  this: np:hasAssertion dgn-np:NP1950.RAJcIC0sH2JD7JcYE7C9m8fjDU-GpMG1zPAy22Zvj90AE130_assertion;
    np:hasProvenance dgn-np:NP1950.RAJcIC0sH2JD7JcYE7C9m8fjDU-GpMG1zPAy22Zvj90AE130_provenance;
    np:hasPublicationInfo dgn-np:NP1950.RAJcIC0sH2JD7JcYE7C9m8fjDU-GpMG1zPAy22Zvj90AE130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1950.RAJcIC0sH2JD7JcYE7C9m8fjDU-GpMG1zPAy22Zvj90AE130_assertion a np:Assertion .
  
  dgn-np:NP1950.RAJcIC0sH2JD7JcYE7C9m8fjDU-GpMG1zPAy22Zvj90AE130_provenance a np:Provenance .
  
  dgn-np:NP1950.RAJcIC0sH2JD7JcYE7C9m8fjDU-GpMG1zPAy22Zvj90AE130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP1950.RAJcIC0sH2JD7JcYE7C9m8fjDU-GpMG1zPAy22Zvj90AE130_assertion {
  miriam-gene:8892 a ncit:C16612 .
  
  lld:C1858991 a ncit:C7057 .
  
  dgn-gda:DGN769aa7dacb22c36c53babaa46efde291 sio:SIO_000628 miriam-gene:8892, lld:C1858991;
    a sio:SIO_001122 .
}

dgn-np:NP1950.RAJcIC0sH2JD7JcYE7C9m8fjDU-GpMG1zPAy22Zvj90AE130_provenance {
  dgn-np:NP1950.RAJcIC0sH2JD7JcYE7C9m8fjDU-GpMG1zPAy22Zvj90AE130_assertion dc:description
      "[In this study 15 well-characterised patients with the classical form of leukoencephalopathy with vanishing white matter (VWM) or with phenotypic variants like ovarioleukodystrophy were investigated for mutations in the genes EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5 encoding eIF2B.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en;
    wi:evidence dgn-void:source_evidence_curated;
    sio:SIO_000772 miriam-pubmed:15776425;
    prov:wasDerivedFrom dgn-void:uniprot-20130724;
    prov:wasGeneratedBy eco:ECO_0000218 .
  
  dgn-void:source_evidence_curated a eco:ECO_0000205;
    rdfs:comment "Gene-disease associations manually curated."@en;
    rdfs:label "DisGeNET evidence - CURATED"@en .
  
  dgn-void:uniprot-20130724 pav:importedOn "2013-07-24"^^xsd:date .
}

dgn-np:NP1950.RAJcIC0sH2JD7JcYE7C9m8fjDU-GpMG1zPAy22Zvj90AE130_publicationInfo {
  this: dc:created "2014-10-02T12:31:58+02:00"^^xsd:dateTime;
    dc:rights <http://opendatacommons.org/licenses/odbl/1.0/>;
    dc:rightsHolder dgn-void:IBIGroup;
    dc: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" .
}