@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP354365.RAaqeD6frhXfsfuvi1tvbQpFP4BcCTjvv8juJideBOM7c> .
@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:NP354365.RAaqeD6frhXfsfuvi1tvbQpFP4BcCTjvv8juJideBOM7c130_head {
  this: np:hasAssertion dgn-np:NP354365.RAaqeD6frhXfsfuvi1tvbQpFP4BcCTjvv8juJideBOM7c130_assertion;
    np:hasProvenance dgn-np:NP354365.RAaqeD6frhXfsfuvi1tvbQpFP4BcCTjvv8juJideBOM7c130_provenance;
    np:hasPublicationInfo dgn-np:NP354365.RAaqeD6frhXfsfuvi1tvbQpFP4BcCTjvv8juJideBOM7c130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP354365.RAaqeD6frhXfsfuvi1tvbQpFP4BcCTjvv8juJideBOM7c130_assertion a np:Assertion .
  
  dgn-np:NP354365.RAaqeD6frhXfsfuvi1tvbQpFP4BcCTjvv8juJideBOM7c130_provenance a np:Provenance .
  
  dgn-np:NP354365.RAaqeD6frhXfsfuvi1tvbQpFP4BcCTjvv8juJideBOM7c130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP354365.RAaqeD6frhXfsfuvi1tvbQpFP4BcCTjvv8juJideBOM7c130_assertion {
  miriam-gene:3949 a ncit:C16612 .
  
  lld:C0020445 a ncit:C7057 .
  
  dgn-gda:DGNe9c5296463b57639606b9be51a734cc2 sio:SIO_000628 miriam-gene:3949, lld:C0020445;
    a sio:SIO_001121 .
}

dgn-np:NP354365.RAaqeD6frhXfsfuvi1tvbQpFP4BcCTjvv8juJideBOM7c130_provenance {
  dgn-np:NP354365.RAaqeD6frhXfsfuvi1tvbQpFP4BcCTjvv8juJideBOM7c130_assertion dcterms:description
      "[It is interesting that this patient, eventhough harbouring two mutations on both alleles of the LDL receptor gene (presumably homozygous genotype of FH), apparently revealed lipid levels of heterozygous phenotype of FH without symptoms of coronary artery disease.]. 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:12002911;
    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:NP354365.RAaqeD6frhXfsfuvi1tvbQpFP4BcCTjvv8juJideBOM7c130_publicationInfo {
  this: dcterms:created "2016-05-13T12:44:26+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" .
}