@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1097986.RAuUUc1N4jmNdJnuRky3OyUSNu6MeT4-gbaTrmYlN-k5I> .
@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:NP1097986.RAuUUc1N4jmNdJnuRky3OyUSNu6MeT4-gbaTrmYlN-k5I130_head {
  this: np:hasAssertion dgn-np:NP1097986.RAuUUc1N4jmNdJnuRky3OyUSNu6MeT4-gbaTrmYlN-k5I130_assertion;
    np:hasProvenance dgn-np:NP1097986.RAuUUc1N4jmNdJnuRky3OyUSNu6MeT4-gbaTrmYlN-k5I130_provenance;
    np:hasPublicationInfo dgn-np:NP1097986.RAuUUc1N4jmNdJnuRky3OyUSNu6MeT4-gbaTrmYlN-k5I130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1097986.RAuUUc1N4jmNdJnuRky3OyUSNu6MeT4-gbaTrmYlN-k5I130_assertion a np:Assertion .
  
  dgn-np:NP1097986.RAuUUc1N4jmNdJnuRky3OyUSNu6MeT4-gbaTrmYlN-k5I130_provenance a np:Provenance .
  
  dgn-np:NP1097986.RAuUUc1N4jmNdJnuRky3OyUSNu6MeT4-gbaTrmYlN-k5I130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1097986.RAuUUc1N4jmNdJnuRky3OyUSNu6MeT4-gbaTrmYlN-k5I130_assertion {
  miriam-gene:2200 a ncit:C16612 .
  
  lld:C0265287 a ncit:C7057 .
  
  dgn-gda:DGNd9dfb573d2a549155e4c8ae555ebb03c sio:SIO_000628 miriam-gene:2200, lld:C0265287;
    a sio:SIO_001121 .
}

dgn-np:NP1097986.RAuUUc1N4jmNdJnuRky3OyUSNu6MeT4-gbaTrmYlN-k5I130_provenance {
  dgn-np:NP1097986.RAuUUc1N4jmNdJnuRky3OyUSNu6MeT4-gbaTrmYlN-k5I130_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-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:NP1097986.RAuUUc1N4jmNdJnuRky3OyUSNu6MeT4-gbaTrmYlN-k5I130_publicationInfo {
  this: dcterms:created "2016-05-13T12:50:03+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" .
}