@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM> .
@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:NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM130_head {
  this: np:hasAssertion dgn-np:NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM130_assertion;
    np:hasProvenance dgn-np:NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM130_provenance;
    np:hasPublicationInfo dgn-np:NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM130_assertion a np:Assertion .
  
  dgn-np:NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM130_provenance a np:Provenance .
  
  dgn-np:NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM130_assertion {
  miriam-gene:3949 a ncit:C16612 .
  
  lld:C0020445 a ncit:C7057 .
  
  dgn-gda:DGNcb181a8546cae4ed219e25ad128788bb sio:SIO_000628 miriam-gene:3949, lld:C0020445;
    a sio:SIO_001122 .
}

dgn-np:NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM130_provenance {
  dgn-np:NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM130_assertion dcterms:description
      "[Sixteen of 17 apparently unrelated individuals heterozygous for FH E80K also were heterozygous for an identical size (239 nucleotide) allele, of polymorphic microsatellite D19S394, located approximately 250 kb away from the LDLR gene.]. 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:9547893;
    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:NP1393237.RA_KjEzAwE9uOckCM0Do3h90M5QL20A2HlABj2OLeAdyM130_publicationInfo {
  this: dcterms:created "2016-05-13T12:52:17+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" .
}