@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP313952.RAzNBAZWl4ZoVvuvprLffPsNR68KTnpsKcEwiExYQefJc> .
@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/v3.0.0/void/> .

dgn-np:NP313952.RAzNBAZWl4ZoVvuvprLffPsNR68KTnpsKcEwiExYQefJc130_head {
  this: np:hasAssertion dgn-np:NP313952.RAzNBAZWl4ZoVvuvprLffPsNR68KTnpsKcEwiExYQefJc130_assertion;
    np:hasProvenance dgn-np:NP313952.RAzNBAZWl4ZoVvuvprLffPsNR68KTnpsKcEwiExYQefJc130_provenance;
    np:hasPublicationInfo dgn-np:NP313952.RAzNBAZWl4ZoVvuvprLffPsNR68KTnpsKcEwiExYQefJc130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP313952.RAzNBAZWl4ZoVvuvprLffPsNR68KTnpsKcEwiExYQefJc130_assertion a np:Assertion .
  
  dgn-np:NP313952.RAzNBAZWl4ZoVvuvprLffPsNR68KTnpsKcEwiExYQefJc130_provenance a np:Provenance .
  
  dgn-np:NP313952.RAzNBAZWl4ZoVvuvprLffPsNR68KTnpsKcEwiExYQefJc130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP313952.RAzNBAZWl4ZoVvuvprLffPsNR68KTnpsKcEwiExYQefJc130_assertion {
  miriam-gene:1130 a ncit:C16612 .
  
  lld:C0007965 a ncit:C7057 .
  
  dgn-gda:DGN26bb60c6297411502bdf17962618a81a sio:SIO_000628 miriam-gene:1130, lld:C0007965;
    a sio:SIO_001121 .
}

dgn-np:NP313952.RAzNBAZWl4ZoVvuvprLffPsNR68KTnpsKcEwiExYQefJc130_provenance {
  dgn-np:NP313952.RAzNBAZWl4ZoVvuvprLffPsNR68KTnpsKcEwiExYQefJc130_assertion dcterms:description
      "[In patients with severe childhood CHS, we found only functionally null mutant CHS1 alleles, whereas in patients with the adolescent and adult forms of CHS we also found missense mutant alleles that likely encode CHS1 polypeptides with partial function.]. 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:11857544;
    prov:wasDerivedFrom dgn-void:befree-20150227;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP313952.RAzNBAZWl4ZoVvuvprLffPsNR68KTnpsKcEwiExYQefJc130_publicationInfo {
  this: dcterms:created "2015-08-25T14:40:40+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 "v3.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}