@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc> .
@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/eco.owl#> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/2.0/> .
@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/nanopublications.trig#> .
@prefix dgn-gda: <http://rdf.disgenet.org/gene-disease-association.ttl#> .
@prefix dgn-void: <http://rdf.disgenet.org/v2.1.0/void.ttl#> .

dgn-np:NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc130_head {
  this: np:hasAssertion dgn-np:NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc130_assertion;
    np:hasProvenance dgn-np:NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc130_provenance;
    np:hasPublicationInfo dgn-np:NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc130_assertion a np:Assertion .
  
  dgn-np:NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc130_provenance a np:Provenance .
  
  dgn-np:NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc130_assertion {
  miriam-gene:2006 a ncit:C16612 .
  
  lld:C0024796 a ncit:C7057 .
  
  dgn-gda:DGN0a5c9039e48fffb99fc59393ec94dee3 sio:SIO_000628 miriam-gene:2006, lld:C0024796;
    a sio:SIO_001121 .
}

dgn-np:NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc130_provenance {
  dgn-np:NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc130_assertion dcterms:description
      "[Although the underlying biochemical and molecular defect(s) of this pleiotropic disease is currently unknown, we have consistently observed apparent diminished content of elastin-associated microfibrillar fibers accumulating in skin, or produced by cultured fibroblasts, from patients with the Marfan syndrome and have documented the cosegregation of these immunofluorescent abnormalities of microfibrillar fibers with the Marfan syndrome phenotype in family studies.]. 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:2180285;
    prov:wasDerivedFrom dgn-void:befree-20140225;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP755217.RAuetVp83bYbtQVJYyDtT6Jv53ExHo7Nu0euWEnZEzSlc130_publicationInfo {
  this: dcterms:created "2014-10-02T12:39:37+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:disgenetrdf;
    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 "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}