@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP744836.RAw5xYvBCIrnOXOZqleHyZS5bhIKKX6yrl_ccVrR6ApAA> .
@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:NP744836.RAw5xYvBCIrnOXOZqleHyZS5bhIKKX6yrl_ccVrR6ApAA130_head {
  this: np:hasAssertion dgn-np:NP744836.RAw5xYvBCIrnOXOZqleHyZS5bhIKKX6yrl_ccVrR6ApAA130_assertion;
    np:hasProvenance dgn-np:NP744836.RAw5xYvBCIrnOXOZqleHyZS5bhIKKX6yrl_ccVrR6ApAA130_provenance;
    np:hasPublicationInfo dgn-np:NP744836.RAw5xYvBCIrnOXOZqleHyZS5bhIKKX6yrl_ccVrR6ApAA130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP744836.RAw5xYvBCIrnOXOZqleHyZS5bhIKKX6yrl_ccVrR6ApAA130_assertion a np:Assertion .
  
  dgn-np:NP744836.RAw5xYvBCIrnOXOZqleHyZS5bhIKKX6yrl_ccVrR6ApAA130_provenance a np:Provenance .
  
  dgn-np:NP744836.RAw5xYvBCIrnOXOZqleHyZS5bhIKKX6yrl_ccVrR6ApAA130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP744836.RAw5xYvBCIrnOXOZqleHyZS5bhIKKX6yrl_ccVrR6ApAA130_assertion {
  miriam-gene:5048 a ncit:C16612 .
  
  lld:C0266617 a ncit:C7057 .
  
  dgn-gda:DGNf6fc14405478573db90a7ff5ac52d430 sio:SIO_000628 miriam-gene:5048, lld:C0266617;
    a sio:SIO_001121 .
}

dgn-np:NP744836.RAw5xYvBCIrnOXOZqleHyZS5bhIKKX6yrl_ccVrR6ApAA130_provenance {
  dgn-np:NP744836.RAw5xYvBCIrnOXOZqleHyZS5bhIKKX6yrl_ccVrR6ApAA130_assertion dcterms:description
      "[This report describes three children with de novo 17p13.1 duplications encompassing the PAFAH1B1 gene, who had similar phenotypic features, including mild to moderate developmental delay, hypotonia and facial dysmorphism, and compares them to the few previously reported cases with this duplication.]. 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:19520700;
    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:NP744836.RAw5xYvBCIrnOXOZqleHyZS5bhIKKX6yrl_ccVrR6ApAA130_publicationInfo {
  this: dcterms:created "2016-05-13T12:47:22+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" .
}