@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP395944.RAafzsESHL663kpSFk2eIIfGVRSVvumlS2X2r6lZ7N9oA> .
@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:NP395944.RAafzsESHL663kpSFk2eIIfGVRSVvumlS2X2r6lZ7N9oA130_head {
  this: np:hasAssertion dgn-np:NP395944.RAafzsESHL663kpSFk2eIIfGVRSVvumlS2X2r6lZ7N9oA130_assertion;
    np:hasProvenance dgn-np:NP395944.RAafzsESHL663kpSFk2eIIfGVRSVvumlS2X2r6lZ7N9oA130_provenance;
    np:hasPublicationInfo dgn-np:NP395944.RAafzsESHL663kpSFk2eIIfGVRSVvumlS2X2r6lZ7N9oA130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP395944.RAafzsESHL663kpSFk2eIIfGVRSVvumlS2X2r6lZ7N9oA130_assertion a np:Assertion .
  
  dgn-np:NP395944.RAafzsESHL663kpSFk2eIIfGVRSVvumlS2X2r6lZ7N9oA130_provenance a np:Provenance .
  
  dgn-np:NP395944.RAafzsESHL663kpSFk2eIIfGVRSVvumlS2X2r6lZ7N9oA130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP395944.RAafzsESHL663kpSFk2eIIfGVRSVvumlS2X2r6lZ7N9oA130_assertion {
  miriam-gene:2200 a ncit:C16612 .
  
  lld:C0340643 a ncit:C7057 .
  
  dgn-gda:DGN3a17759e2007784f79ee6e448e1a238b sio:SIO_000628 miriam-gene:2200, lld:C0340643;
    a sio:SIO_001122 .
}

dgn-np:NP395944.RAafzsESHL663kpSFk2eIIfGVRSVvumlS2X2r6lZ7N9oA130_provenance {
  dgn-np:NP395944.RAafzsESHL663kpSFk2eIIfGVRSVvumlS2X2r6lZ7N9oA130_assertion dcterms:description
      "[We postulate that the Cys2633Arg mutation may manifest with significant and progressive enlargement of the aortic root, risk of aortic dissections, and minor skeletal abnormalities, without involving the ocular system (i.e., 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:24504995;
    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:NP395944.RAafzsESHL663kpSFk2eIIfGVRSVvumlS2X2r6lZ7N9oA130_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" .
}