@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1313654.RAHWCrfuUumRrL0671qiqci6OioRxqKJMTqJoZcZlWCbY> .
@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:NP1313654.RAHWCrfuUumRrL0671qiqci6OioRxqKJMTqJoZcZlWCbY130_head {
  this: np:hasAssertion dgn-np:NP1313654.RAHWCrfuUumRrL0671qiqci6OioRxqKJMTqJoZcZlWCbY130_assertion;
    np:hasProvenance dgn-np:NP1313654.RAHWCrfuUumRrL0671qiqci6OioRxqKJMTqJoZcZlWCbY130_provenance;
    np:hasPublicationInfo dgn-np:NP1313654.RAHWCrfuUumRrL0671qiqci6OioRxqKJMTqJoZcZlWCbY130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1313654.RAHWCrfuUumRrL0671qiqci6OioRxqKJMTqJoZcZlWCbY130_assertion a np:Assertion .
  
  dgn-np:NP1313654.RAHWCrfuUumRrL0671qiqci6OioRxqKJMTqJoZcZlWCbY130_provenance a np:Provenance .
  
  dgn-np:NP1313654.RAHWCrfuUumRrL0671qiqci6OioRxqKJMTqJoZcZlWCbY130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1313654.RAHWCrfuUumRrL0671qiqci6OioRxqKJMTqJoZcZlWCbY130_assertion {
  miriam-gene:3949 a ncit:C16612 .
  
  lld:C0020445 a ncit:C7057 .
  
  dgn-gda:DGNb7a917901511125399b095989f38248d sio:SIO_000628 miriam-gene:3949, lld:C0020445;
    a sio:SIO_001122 .
}

dgn-np:NP1313654.RAHWCrfuUumRrL0671qiqci6OioRxqKJMTqJoZcZlWCbY130_provenance {
  dgn-np:NP1313654.RAHWCrfuUumRrL0671qiqci6OioRxqKJMTqJoZcZlWCbY130_assertion dcterms:description
      "[PCR-based methods for detection of two point mutations (V408M and P664L) at the LDL receptor (LDLR) locus, cosegregation analysis using eight restriction fragment length polymorphisms (RFLPs) at the LDLR locus, or the exclusion of FDB confirmed the clinical diagnosis of FH.]. 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:7583549;
    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:NP1313654.RAHWCrfuUumRrL0671qiqci6OioRxqKJMTqJoZcZlWCbY130_publicationInfo {
  this: dcterms:created "2016-05-13T12:51:41+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" .
}