@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP411983.RApFtzXGFqiSK6zn5ANyYPxmbzLC9qvcMxmRdkZ6H6_BY> .
@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:NP411983.RApFtzXGFqiSK6zn5ANyYPxmbzLC9qvcMxmRdkZ6H6_BY130_head {
  this: np:hasAssertion dgn-np:NP411983.RApFtzXGFqiSK6zn5ANyYPxmbzLC9qvcMxmRdkZ6H6_BY130_assertion;
    np:hasProvenance dgn-np:NP411983.RApFtzXGFqiSK6zn5ANyYPxmbzLC9qvcMxmRdkZ6H6_BY130_provenance;
    np:hasPublicationInfo dgn-np:NP411983.RApFtzXGFqiSK6zn5ANyYPxmbzLC9qvcMxmRdkZ6H6_BY130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP411983.RApFtzXGFqiSK6zn5ANyYPxmbzLC9qvcMxmRdkZ6H6_BY130_assertion a np:Assertion .
  
  dgn-np:NP411983.RApFtzXGFqiSK6zn5ANyYPxmbzLC9qvcMxmRdkZ6H6_BY130_provenance a np:Provenance .
  
  dgn-np:NP411983.RApFtzXGFqiSK6zn5ANyYPxmbzLC9qvcMxmRdkZ6H6_BY130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP411983.RApFtzXGFqiSK6zn5ANyYPxmbzLC9qvcMxmRdkZ6H6_BY130_assertion {
  miriam-gene:4763 a ncit:C16612 .
  
  lld:C0027831 a ncit:C7057 .
  
  dgn-gda:DGN12525d93e2f5c71dd29456270c9b7c6c sio:SIO_000628 miriam-gene:4763, lld:C0027831;
    a sio:SIO_001121 .
}

dgn-np:NP411983.RApFtzXGFqiSK6zn5ANyYPxmbzLC9qvcMxmRdkZ6H6_BY130_provenance {
  dgn-np:NP411983.RApFtzXGFqiSK6zn5ANyYPxmbzLC9qvcMxmRdkZ6H6_BY130_assertion dcterms:description
      "[The underestimates of NF1 gene mutations in neurofibromatosis 1 (NF1) have been attributed to the large size of the NF1 gene, the considerable frequency of gross deletions and the common occurrence of splicing defects that are only detectable by cDNA analysis.]. 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:13680360;
    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:NP411983.RApFtzXGFqiSK6zn5ANyYPxmbzLC9qvcMxmRdkZ6H6_BY130_publicationInfo {
  this: dcterms:created "2016-05-13T12:44:52+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" .
}