@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP396030.RAflfMi8Ve1zZynwMdhzHBT3Xy00Ljfa01CDAlkbbd5Bs> .
@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/v3.0.0/void/> .

dgn-np:NP396030.RAflfMi8Ve1zZynwMdhzHBT3Xy00Ljfa01CDAlkbbd5Bs130_head {
  this: np:hasAssertion dgn-np:NP396030.RAflfMi8Ve1zZynwMdhzHBT3Xy00Ljfa01CDAlkbbd5Bs130_assertion;
    np:hasProvenance dgn-np:NP396030.RAflfMi8Ve1zZynwMdhzHBT3Xy00Ljfa01CDAlkbbd5Bs130_provenance;
    np:hasPublicationInfo dgn-np:NP396030.RAflfMi8Ve1zZynwMdhzHBT3Xy00Ljfa01CDAlkbbd5Bs130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP396030.RAflfMi8Ve1zZynwMdhzHBT3Xy00Ljfa01CDAlkbbd5Bs130_assertion a np:Assertion .
  
  dgn-np:NP396030.RAflfMi8Ve1zZynwMdhzHBT3Xy00Ljfa01CDAlkbbd5Bs130_provenance a np:Provenance .
  
  dgn-np:NP396030.RAflfMi8Ve1zZynwMdhzHBT3Xy00Ljfa01CDAlkbbd5Bs130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP396030.RAflfMi8Ve1zZynwMdhzHBT3Xy00Ljfa01CDAlkbbd5Bs130_assertion {
  miriam-gene:2200 a ncit:C16612 .
  
  lld:C3489726 a ncit:C7057 .
  
  dgn-gda:DGN8cf1f9b546c877a2d356da26defa6cf8 sio:SIO_000628 miriam-gene:2200, lld:C3489726;
    a sio:SIO_001121 .
}

dgn-np:NP396030.RAflfMi8Ve1zZynwMdhzHBT3Xy00Ljfa01CDAlkbbd5Bs130_provenance {
  dgn-np:NP396030.RAflfMi8Ve1zZynwMdhzHBT3Xy00Ljfa01CDAlkbbd5Bs130_assertion dcterms:description
      "[These phenotypes provide evidence that missense mutations in exons 41 and 42 of FBN1 lead to MFS and WMS in addition to AD and GD and also suggest that all individuals with pathogenic FBN1 mutations in these exons should be assessed for thoracic aortic disease and ectopia lentis.]. 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:23897642;
    prov:wasDerivedFrom dgn-void:befree-20150227;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP396030.RAflfMi8Ve1zZynwMdhzHBT3Xy00Ljfa01CDAlkbbd5Bs130_publicationInfo {
  this: dcterms:created "2015-08-25T14:41:29+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 "v3.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}