@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP358407.RArI6EszSnw60n4sgbzKDmETEk1yJW5C4N_Vmxq8S3occ> .
@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:NP358407.RArI6EszSnw60n4sgbzKDmETEk1yJW5C4N_Vmxq8S3occ130_head {
  this: np:hasAssertion dgn-np:NP358407.RArI6EszSnw60n4sgbzKDmETEk1yJW5C4N_Vmxq8S3occ130_assertion;
    np:hasProvenance dgn-np:NP358407.RArI6EszSnw60n4sgbzKDmETEk1yJW5C4N_Vmxq8S3occ130_provenance;
    np:hasPublicationInfo dgn-np:NP358407.RArI6EszSnw60n4sgbzKDmETEk1yJW5C4N_Vmxq8S3occ130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP358407.RArI6EszSnw60n4sgbzKDmETEk1yJW5C4N_Vmxq8S3occ130_assertion a np:Assertion .
  
  dgn-np:NP358407.RArI6EszSnw60n4sgbzKDmETEk1yJW5C4N_Vmxq8S3occ130_provenance a np:Provenance .
  
  dgn-np:NP358407.RArI6EszSnw60n4sgbzKDmETEk1yJW5C4N_Vmxq8S3occ130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP358407.RArI6EszSnw60n4sgbzKDmETEk1yJW5C4N_Vmxq8S3occ130_assertion {
  miriam-gene:4763 a ncit:C16612 .
  
  lld:C0206727 a ncit:C7057 .
  
  dgn-gda:DGN87f7a5429145ffca66a2b3b02a9043ae sio:SIO_000628 miriam-gene:4763, lld:C0206727;
    a sio:SIO_001121 .
}

dgn-np:NP358407.RArI6EszSnw60n4sgbzKDmETEk1yJW5C4N_Vmxq8S3occ130_provenance {
  dgn-np:NP358407.RArI6EszSnw60n4sgbzKDmETEk1yJW5C4N_Vmxq8S3occ130_assertion dcterms:description
      "[We describe here a patient with segmental NF in which we could not demonstrate any NF1 gene mutation in fibroblasts cultured from neurofibromas by use of the protein truncation test, enzymatic mutation detection and fluorescence in situ hybridisation.]. 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:12077526;
    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:NP358407.RArI6EszSnw60n4sgbzKDmETEk1yJW5C4N_Vmxq8S3occ130_publicationInfo {
  this: dcterms:created "2016-05-13T12:44:27+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" .
}