@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM> .
@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:NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM130_head {
  this: np:hasAssertion dgn-np:NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM130_assertion;
    np:hasProvenance dgn-np:NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM130_provenance;
    np:hasPublicationInfo dgn-np:NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM130_assertion a np:Assertion .
  
  dgn-np:NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM130_provenance a np:Provenance .
  
  dgn-np:NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM130_assertion {
  miriam-gene:4683 a ncit:C16612 .
  
  lld:C0520463 a ncit:C7057 .
  
  dgn-gda:DGN1f2eae46e9bf15b41ac01f2efe5e44cd sio:SIO_000628 miriam-gene:4683, lld:C0520463;
    a sio:SIO_001121 .
}

dgn-np:NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM130_provenance {
  dgn-np:NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM130_assertion dcterms:description
      "[Molecular testing on 39 patients (25 identified by NBS) with an already established diagnosis of CAH identified 11 SW patients (8 identified by NBS) whose mutations suggested further biochemical and clinical reassessment of their subtype.]. 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:21534945;
    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:NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM130_publicationInfo {
  this: dcterms:created "2014-10-02T12:34:53+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" .
}