@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1372842.RAPRoZfTZDwMYTr_Vjvl4XlZDxghxxJLYZhY132TZ-fnU> .
@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 dcterms: <http://purl.org/dc/terms/> .
@prefix np: <http://www.nanopub.org/nschema#> .
@prefix dgn-np: <http://rdf.disgenet.org/resource/nanopub/> .
@prefix dgn-gda: <http://rdf.disgenet.org/resource/gda/> .
@prefix dgn-void: <http://rdf.disgenet.org/v4.0.0/void/> .

dgn-np:NP1372842.RAPRoZfTZDwMYTr_Vjvl4XlZDxghxxJLYZhY132TZ-fnU130_head {
  this: np:hasAssertion dgn-np:NP1372842.RAPRoZfTZDwMYTr_Vjvl4XlZDxghxxJLYZhY132TZ-fnU130_assertion;
    np:hasProvenance dgn-np:NP1372842.RAPRoZfTZDwMYTr_Vjvl4XlZDxghxxJLYZhY132TZ-fnU130_provenance;
    np:hasPublicationInfo dgn-np:NP1372842.RAPRoZfTZDwMYTr_Vjvl4XlZDxghxxJLYZhY132TZ-fnU130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1372842.RAPRoZfTZDwMYTr_Vjvl4XlZDxghxxJLYZhY132TZ-fnU130_assertion a np:Assertion .
  
  dgn-np:NP1372842.RAPRoZfTZDwMYTr_Vjvl4XlZDxghxxJLYZhY132TZ-fnU130_provenance a np:Provenance .
  
  dgn-np:NP1372842.RAPRoZfTZDwMYTr_Vjvl4XlZDxghxxJLYZhY132TZ-fnU130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1372842.RAPRoZfTZDwMYTr_Vjvl4XlZDxghxxJLYZhY132TZ-fnU130_assertion {
  miriam-gene:2131 a ncit:C16612 .
  
  lld:C0015306 a ncit:C7057 .
  
  dgn-gda:DGN9fe9c616948714421c7e336c4c26b800 sio:SIO_000628 miriam-gene:2131, lld:C0015306;
    a sio:SIO_001121 .
}

dgn-np:NP1372842.RAPRoZfTZDwMYTr_Vjvl4XlZDxghxxJLYZhY132TZ-fnU130_provenance {
  dgn-np:NP1372842.RAPRoZfTZDwMYTr_Vjvl4XlZDxghxxJLYZhY132TZ-fnU130_assertion dcterms:description
      "[These results corroborate and extend the previous report of mutations in this gene in two EXT families, and provide additional support for the EXT1 gene as the cause of hereditary multiple exostoses in families showing linkage to chromosome 8.]. 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:9150727;
    prov:wasDerivedFrom dgn-void:befree-2016;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP1372842.RAPRoZfTZDwMYTr_Vjvl4XlZDxghxxJLYZhY132TZ-fnU130_publicationInfo {
  this: dcterms:created "2016-05-13T12:52:08+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: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" .
}