@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP427532.RA7HCxKXBCRoFM9040Jcv7EE_xHbakdYsbxREPaJs0RVA> .
@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:NP427532.RA7HCxKXBCRoFM9040Jcv7EE_xHbakdYsbxREPaJs0RVA130_head {
  this: np:hasAssertion dgn-np:NP427532.RA7HCxKXBCRoFM9040Jcv7EE_xHbakdYsbxREPaJs0RVA130_assertion;
    np:hasProvenance dgn-np:NP427532.RA7HCxKXBCRoFM9040Jcv7EE_xHbakdYsbxREPaJs0RVA130_provenance;
    np:hasPublicationInfo dgn-np:NP427532.RA7HCxKXBCRoFM9040Jcv7EE_xHbakdYsbxREPaJs0RVA130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP427532.RA7HCxKXBCRoFM9040Jcv7EE_xHbakdYsbxREPaJs0RVA130_assertion a np:Assertion .
  
  dgn-np:NP427532.RA7HCxKXBCRoFM9040Jcv7EE_xHbakdYsbxREPaJs0RVA130_provenance a np:Provenance .
  
  dgn-np:NP427532.RA7HCxKXBCRoFM9040Jcv7EE_xHbakdYsbxREPaJs0RVA130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP427532.RA7HCxKXBCRoFM9040Jcv7EE_xHbakdYsbxREPaJs0RVA130_assertion {
  miriam-gene:2720 a ncit:C16612 .
  
  lld:C0878544 a ncit:C7057 .
  
  dgn-gda:DGNd64fa715f7f2a0f8d048ea9912d514a1 sio:SIO_000628 miriam-gene:2720, lld:C0878544;
    a sio:SIO_001122 .
}

dgn-np:NP427532.RA7HCxKXBCRoFM9040Jcv7EE_xHbakdYsbxREPaJs0RVA130_provenance {
  dgn-np:NP427532.RA7HCxKXBCRoFM9040Jcv7EE_xHbakdYsbxREPaJs0RVA130_assertion dcterms:description
      "[Interestingly, all patients with cardiac involvement were homozygous for one of these mutations: R59H, Y591C, Y591N, or IVS14-2A&gt;G. In contrast, all other patients were compound heterozygous for one of the following mutations: R201H, R482H, G579D, IVS8+2T&gt;C. Although we could not directly correlate the presence of cardiac abnormalities with specific genetic lesions, the mutations identified in patients with cardiomyopathy fell in the GLB1 cDNA region common to the lysosomal enzyme and the Hbeta-Gal-related protein, also known as the elastin binding protein (EBP).]. 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:10737981;
    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:NP427532.RA7HCxKXBCRoFM9040Jcv7EE_xHbakdYsbxREPaJs0RVA130_publicationInfo {
  this: dcterms:created "2015-08-25T14:41:49+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" .
}