@prefix dct: <http://purl.org/dc/terms/> .
@prefix dgn-np: <http://rdf.disgenet.org/resource/nanopub/> .
@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1838.RADVs5VGmGvWUlbEEvEDIQqgx76kVcW79p2zRszIVK75c> .
@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/> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/> .
@prefix prv: <http://purl.org/net/provenance/ns#> .
@prefix np: <http://www.nanopub.org/nschema#> .
@prefix dgn-gda: <http://rdf.disgenet.org/resource/gda/> .
@prefix dgn-void: <http://rdf.disgenet.org/v4.0.0/void/> .

dgn-np:NP1838.RADVs5VGmGvWUlbEEvEDIQqgx76kVcW79p2zRszIVK75c130_head {
  this: np:hasAssertion dgn-np:NP1838.RADVs5VGmGvWUlbEEvEDIQqgx76kVcW79p2zRszIVK75c130_assertion;
    np:hasProvenance dgn-np:NP1838.RADVs5VGmGvWUlbEEvEDIQqgx76kVcW79p2zRszIVK75c130_provenance;
    np:hasPublicationInfo dgn-np:NP1838.RADVs5VGmGvWUlbEEvEDIQqgx76kVcW79p2zRszIVK75c130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1838.RADVs5VGmGvWUlbEEvEDIQqgx76kVcW79p2zRszIVK75c130_assertion a np:Assertion .
  
  dgn-np:NP1838.RADVs5VGmGvWUlbEEvEDIQqgx76kVcW79p2zRszIVK75c130_provenance a np:Provenance .
  
  dgn-np:NP1838.RADVs5VGmGvWUlbEEvEDIQqgx76kVcW79p2zRszIVK75c130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP1838.RADVs5VGmGvWUlbEEvEDIQqgx76kVcW79p2zRszIVK75c130_assertion {
  miriam-gene:10166 a ncit:C16612 .
  
  lld:C0268540 a ncit:C7057 .
  
  dgn-gda:DGN5263143ffd634562e3fbc71967505e1d sio:SIO_000628 miriam-gene:10166, lld:C0268540;
    a sio:SIO_001122 .
}

dgn-np:NP1838.RADVs5VGmGvWUlbEEvEDIQqgx76kVcW79p2zRszIVK75c130_provenance {
  dgn-np:NP1838.RADVs5VGmGvWUlbEEvEDIQqgx76kVcW79p2zRszIVK75c130_assertion dct:description
      "[Because the patient did not have any of the three mutations previously described in other Japanese patients with HHH syndrome, and the only material available from the patient was peripheral leukocytes, we established a genomic polymerase chain reaction method using intronic primers to amplify every exon of the ORNT1 gene, and we directly sequenced the polymerase chain reaction products.]. 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:11814739;
    prov:wasDerivedFrom dgn-void:uniprot-2016;
    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-2016 pav:importedOn "2016-01-25"^^xsd:date .
}

dgn-np:NP1838.RADVs5VGmGvWUlbEEvEDIQqgx76kVcW79p2zRszIVK75c130_publicationInfo {
  this: dct:created "2016-05-13T12:41:50+02:00"^^xsd:dateTime;
    dct:rights <http://opendatacommons.org/licenses/odbl/1.0/>;
    dct:rightsHolder dgn-void:IBIGroup;
    dct:subject sio:SIO_000983;
    prv:usedData dgn-void:disgenetv3.0rdf;
    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 "v4.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}