@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP9478.RAHctlltqbFkFNKsmxbVW1v6CIph_P1jOHJQtUUxhdSOA> .
@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:NP9478.RAHctlltqbFkFNKsmxbVW1v6CIph_P1jOHJQtUUxhdSOA130_head {
  this: np:hasAssertion dgn-np:NP9478.RAHctlltqbFkFNKsmxbVW1v6CIph_P1jOHJQtUUxhdSOA130_assertion;
    np:hasProvenance dgn-np:NP9478.RAHctlltqbFkFNKsmxbVW1v6CIph_P1jOHJQtUUxhdSOA130_provenance;
    np:hasPublicationInfo dgn-np:NP9478.RAHctlltqbFkFNKsmxbVW1v6CIph_P1jOHJQtUUxhdSOA130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP9478.RAHctlltqbFkFNKsmxbVW1v6CIph_P1jOHJQtUUxhdSOA130_assertion a np:Assertion .
  
  dgn-np:NP9478.RAHctlltqbFkFNKsmxbVW1v6CIph_P1jOHJQtUUxhdSOA130_provenance a np:Provenance .
  
  dgn-np:NP9478.RAHctlltqbFkFNKsmxbVW1v6CIph_P1jOHJQtUUxhdSOA130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP9478.RAHctlltqbFkFNKsmxbVW1v6CIph_P1jOHJQtUUxhdSOA130_assertion {
  miriam-gene:546 a ncit:C16612 .
  
  lld:C0018273 a ncit:C7057 .
  
  dgn-gda:DGN29469d102b7b45993d898cae924db26d sio:SIO_000628 miriam-gene:546, lld:C0018273;
    a sio:SIO_001121 .
}

dgn-np:NP9478.RAHctlltqbFkFNKsmxbVW1v6CIph_P1jOHJQtUUxhdSOA130_provenance {
  dgn-np:NP9478.RAHctlltqbFkFNKsmxbVW1v6CIph_P1jOHJQtUUxhdSOA130_assertion dcterms:description
      "[Detailed comparison of the clinical characteristics and the function of the genes located in the commonly duplicated regions of these patients led us to the hypothesis that an increased dosage of ATRX and perhaps of other genes is involved in the pathogenetic mechanism of this XLMR phenotype, including mental retardation, short stature, and genital abnormalities comprising cryptorchidism and/or a small penis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en;
    wi:evidence dgn-void:source_evidence_curated;
    sio:SIO_000772 miriam-pubmed:19291773;
    prov:wasDerivedFrom dgn-void:ctd_human-20130708;
    prov:wasGeneratedBy eco:ECO_0000218 .
  
  dgn-void:ctd_human-20130708 pav:importedOn "2013-07-24"^^xsd:date .
  
  dgn-void:source_evidence_curated a eco:ECO_0000205;
    rdfs:comment "Gene-disease associations manually curated."@en;
    rdfs:label "DisGeNET evidence - CURATED"@en .
}

dgn-np:NP9478.RAHctlltqbFkFNKsmxbVW1v6CIph_P1jOHJQtUUxhdSOA130_publicationInfo {
  this: dcterms:created "2014-10-02T12:32:02+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" .
}