@prefix bfo: <http://purl.obolibrary.org/obo/> .
@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP739648.RAFn8yp64OPVl4q6NxgCFj3lojclfnGzfD-XcunKgMcMo> .
@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 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:NP739648.RAFn8yp64OPVl4q6NxgCFj3lojclfnGzfD-XcunKgMcMo130_head {
  this: np:hasAssertion dgn-np:NP739648.RAFn8yp64OPVl4q6NxgCFj3lojclfnGzfD-XcunKgMcMo130_assertion;
    np:hasProvenance dgn-np:NP739648.RAFn8yp64OPVl4q6NxgCFj3lojclfnGzfD-XcunKgMcMo130_provenance;
    np:hasPublicationInfo dgn-np:NP739648.RAFn8yp64OPVl4q6NxgCFj3lojclfnGzfD-XcunKgMcMo130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP739648.RAFn8yp64OPVl4q6NxgCFj3lojclfnGzfD-XcunKgMcMo130_assertion a np:Assertion .
  
  dgn-np:NP739648.RAFn8yp64OPVl4q6NxgCFj3lojclfnGzfD-XcunKgMcMo130_provenance a np:Provenance .
  
  dgn-np:NP739648.RAFn8yp64OPVl4q6NxgCFj3lojclfnGzfD-XcunKgMcMo130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP739648.RAFn8yp64OPVl4q6NxgCFj3lojclfnGzfD-XcunKgMcMo130_assertion {
  miriam-gene:5781 a ncit:C16612 .
  
  lld:C0028326 a ncit:C7057 .
  
  dgn-gda:DGN30eadde2ba8ddff17e21e1df193b7d36 sio:SIO_000628 miriam-gene:5781, lld:C0028326;
    a sio:SIO_001121 .
}

dgn-np:NP739648.RAFn8yp64OPVl4q6NxgCFj3lojclfnGzfD-XcunKgMcMo130_provenance {
  dgn-np:NP739648.RAFn8yp64OPVl4q6NxgCFj3lojclfnGzfD-XcunKgMcMo130_assertion dcterms:description
      "[Contrarily, absence of both cutaneous neurofibromas and NS features in her relatives with the same NF1 mutation, suggests that the index patient's typical NFNS phenotype is caused by an additive effect of mutations in both NF1 and PTPN11.]. 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:19449407;
    prov:wasDerivedFrom dgn-void:befree-2016;
    prov:wasGeneratedBy bfo:ECO_0000203 .
  
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^xsd:date .
  
  dgn-void:source_evidence_literature a bfo:ECO_0000212;
    rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en;
    rdfs:label "DisGeNET evidence - LITERATURE"@en .
}

dgn-np:NP739648.RAFn8yp64OPVl4q6NxgCFj3lojclfnGzfD-XcunKgMcMo130_publicationInfo {
  this: dcterms:created "2016-05-13T12:47:20+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" .
}