@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP180330.RAUzZXNgO_ypbQOT0upfUIweW6a7feITQKv0h8cha9ynk> .
@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:NP180330.RAUzZXNgO_ypbQOT0upfUIweW6a7feITQKv0h8cha9ynk130_head {
  this: np:hasAssertion dgn-np:NP180330.RAUzZXNgO_ypbQOT0upfUIweW6a7feITQKv0h8cha9ynk130_assertion;
    np:hasProvenance dgn-np:NP180330.RAUzZXNgO_ypbQOT0upfUIweW6a7feITQKv0h8cha9ynk130_provenance;
    np:hasPublicationInfo dgn-np:NP180330.RAUzZXNgO_ypbQOT0upfUIweW6a7feITQKv0h8cha9ynk130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP180330.RAUzZXNgO_ypbQOT0upfUIweW6a7feITQKv0h8cha9ynk130_assertion a np:Assertion .
  
  dgn-np:NP180330.RAUzZXNgO_ypbQOT0upfUIweW6a7feITQKv0h8cha9ynk130_provenance a np:Provenance .
  
  dgn-np:NP180330.RAUzZXNgO_ypbQOT0upfUIweW6a7feITQKv0h8cha9ynk130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP180330.RAUzZXNgO_ypbQOT0upfUIweW6a7feITQKv0h8cha9ynk130_assertion {
  miriam-gene:475 a ncit:C16612 .
  
  lld:C0022716 a ncit:C7057 .
  
  dgn-gda:DGNf5178f664e97360a7a1c19bd26cf1e96 sio:SIO_000628 miriam-gene:475, lld:C0022716;
    a sio:SIO_001121 .
}

dgn-np:NP180330.RAUzZXNgO_ypbQOT0upfUIweW6a7feITQKv0h8cha9ynk130_provenance {
  dgn-np:NP180330.RAUzZXNgO_ypbQOT0upfUIweW6a7feITQKv0h8cha9ynk130_assertion dcterms:description
      "[We screened for ATOX1 mutations in two patients with classical Menkes disease phenotypes and one individual with occipital horn syndrome who had no alterations detected in ATP7A, as well as an adult female with chronic anemia, low serum copper and evidence of mild dopamine-beta-hydroxylase deficiency and no alterations in the ATOX1 coding or splice junction sequences were found.]. 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:12594858;
    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:NP180330.RAUzZXNgO_ypbQOT0upfUIweW6a7feITQKv0h8cha9ynk130_publicationInfo {
  this: dcterms:created "2014-10-02T12:33:37+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" .
}