@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP231711.RA2ClBl3uaYMh4b5UXIGxOVdj8-ExWdGYD-I_fiOIsrEg> .
@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:NP231711.RA2ClBl3uaYMh4b5UXIGxOVdj8-ExWdGYD-I_fiOIsrEg130_head {
  this: np:hasAssertion dgn-np:NP231711.RA2ClBl3uaYMh4b5UXIGxOVdj8-ExWdGYD-I_fiOIsrEg130_assertion;
    np:hasProvenance dgn-np:NP231711.RA2ClBl3uaYMh4b5UXIGxOVdj8-ExWdGYD-I_fiOIsrEg130_provenance;
    np:hasPublicationInfo dgn-np:NP231711.RA2ClBl3uaYMh4b5UXIGxOVdj8-ExWdGYD-I_fiOIsrEg130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP231711.RA2ClBl3uaYMh4b5UXIGxOVdj8-ExWdGYD-I_fiOIsrEg130_assertion a np:Assertion .
  
  dgn-np:NP231711.RA2ClBl3uaYMh4b5UXIGxOVdj8-ExWdGYD-I_fiOIsrEg130_provenance a np:Provenance .
  
  dgn-np:NP231711.RA2ClBl3uaYMh4b5UXIGxOVdj8-ExWdGYD-I_fiOIsrEg130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP231711.RA2ClBl3uaYMh4b5UXIGxOVdj8-ExWdGYD-I_fiOIsrEg130_assertion {
  miriam-gene:2132 a ncit:C16612 .
  
  lld:C0015306 a ncit:C7057 .
  
  dgn-gda:DGNee2fa5f22db0d7649157a8b42538666b sio:SIO_000628 miriam-gene:2132, lld:C0015306;
    a sio:SIO_001121 .
}

dgn-np:NP231711.RA2ClBl3uaYMh4b5UXIGxOVdj8-ExWdGYD-I_fiOIsrEg130_provenance {
  dgn-np:NP231711.RA2ClBl3uaYMh4b5UXIGxOVdj8-ExWdGYD-I_fiOIsrEg130_assertion dcterms:description
      "[In order to develop an efficient screening strategy for mutations in these genes, we performed two independent blind screens of EXT1 and EXT2 in 34 unrelated patients with HME, using denaturing high-performance liquid chromatography (DHPLC) and fluorescent single-strand conformation polymorphism analysis (F-SSCP).]. 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:10713884;
    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:NP231711.RA2ClBl3uaYMh4b5UXIGxOVdj8-ExWdGYD-I_fiOIsrEg130_publicationInfo {
  this: dcterms:created "2014-10-02T12:34:10+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" .
}