@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1079550.RAvZbQk6i-jHkM7fC6bxb813SgNftHomNMS4QxMWvl-rs> .
@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:NP1079550.RAvZbQk6i-jHkM7fC6bxb813SgNftHomNMS4QxMWvl-rs130_head {
  this: np:hasAssertion dgn-np:NP1079550.RAvZbQk6i-jHkM7fC6bxb813SgNftHomNMS4QxMWvl-rs130_assertion;
    np:hasProvenance dgn-np:NP1079550.RAvZbQk6i-jHkM7fC6bxb813SgNftHomNMS4QxMWvl-rs130_provenance;
    np:hasPublicationInfo dgn-np:NP1079550.RAvZbQk6i-jHkM7fC6bxb813SgNftHomNMS4QxMWvl-rs130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1079550.RAvZbQk6i-jHkM7fC6bxb813SgNftHomNMS4QxMWvl-rs130_assertion a np:Assertion .
  
  dgn-np:NP1079550.RAvZbQk6i-jHkM7fC6bxb813SgNftHomNMS4QxMWvl-rs130_provenance a np:Provenance .
  
  dgn-np:NP1079550.RAvZbQk6i-jHkM7fC6bxb813SgNftHomNMS4QxMWvl-rs130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1079550.RAvZbQk6i-jHkM7fC6bxb813SgNftHomNMS4QxMWvl-rs130_assertion {
  miriam-gene:6534 a ncit:C16612 .
  
  lld:C0424605 a ncit:C7057 .
  
  dgn-gda:DGN4c0ab7979a10601389bcc436b419621a sio:SIO_000628 miriam-gene:6534, lld:C0424605;
    a sio:SIO_001121 .
}

dgn-np:NP1079550.RAvZbQk6i-jHkM7fC6bxb813SgNftHomNMS4QxMWvl-rs130_provenance {
  dgn-np:NP1079550.RAvZbQk6i-jHkM7fC6bxb813SgNftHomNMS4QxMWvl-rs130_assertion dcterms:description
      "[We discuss the involvement of the other deleted genes such as CAMK2A or SLC6A7 in the cognitive development delay of the patients reported, and we propose the systematic investigation for 5q32 deletion when intellectual disability is associated with Treacher Collins syndrome.]. 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:23695276;
    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:NP1079550.RAvZbQk6i-jHkM7fC6bxb813SgNftHomNMS4QxMWvl-rs130_publicationInfo {
  this: dcterms:created "2016-05-13T12:49:55+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" .
}