@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1411268.RAG1MxlPj3eyTTGbH31jHQLfj3sIcT7m8R8eO3yCXUQbs> .
@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:NP1411268.RAG1MxlPj3eyTTGbH31jHQLfj3sIcT7m8R8eO3yCXUQbs130_head {
  this: np:hasAssertion dgn-np:NP1411268.RAG1MxlPj3eyTTGbH31jHQLfj3sIcT7m8R8eO3yCXUQbs130_assertion;
    np:hasProvenance dgn-np:NP1411268.RAG1MxlPj3eyTTGbH31jHQLfj3sIcT7m8R8eO3yCXUQbs130_provenance;
    np:hasPublicationInfo dgn-np:NP1411268.RAG1MxlPj3eyTTGbH31jHQLfj3sIcT7m8R8eO3yCXUQbs130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1411268.RAG1MxlPj3eyTTGbH31jHQLfj3sIcT7m8R8eO3yCXUQbs130_assertion a np:Assertion .
  
  dgn-np:NP1411268.RAG1MxlPj3eyTTGbH31jHQLfj3sIcT7m8R8eO3yCXUQbs130_provenance a np:Provenance .
  
  dgn-np:NP1411268.RAG1MxlPj3eyTTGbH31jHQLfj3sIcT7m8R8eO3yCXUQbs130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1411268.RAG1MxlPj3eyTTGbH31jHQLfj3sIcT7m8R8eO3yCXUQbs130_assertion {
  miriam-gene:7450 a ncit:C16612 .
  
  lld:C1282971 a ncit:C7057 .
  
  dgn-gda:DGN7435db1c602327d3edc4770ef0919cdf sio:SIO_000628 miriam-gene:7450, lld:C1282971;
    a sio:SIO_001121 .
}

dgn-np:NP1411268.RAG1MxlPj3eyTTGbH31jHQLfj3sIcT7m8R8eO3yCXUQbs130_provenance {
  dgn-np:NP1411268.RAG1MxlPj3eyTTGbH31jHQLfj3sIcT7m8R8eO3yCXUQbs130_assertion dcterms:description
      "[We report the identification in five patients (three families) affected with type 2B von Willebrand disease (VWD) of three heterozygous nucleotide substitutions at the codon for arginine 543, 545 and 578 of the mature von Willebrand factor (VWF) subunit resulting in a glutamine, proline and leucine substitution, respectively.]. 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:9858249;
    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:NP1411268.RAG1MxlPj3eyTTGbH31jHQLfj3sIcT7m8R8eO3yCXUQbs130_publicationInfo {
  this: dcterms:created "2016-05-13T12:52:26+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" .
}