@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP297455.RAXSjgsTNv3Fn54UY0S0nazW18R8JPB8nitrdjkc9NEfo> .
@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:NP297455.RAXSjgsTNv3Fn54UY0S0nazW18R8JPB8nitrdjkc9NEfo130_head {
   this: np:hasAssertion dgn-np:NP297455.RAXSjgsTNv3Fn54UY0S0nazW18R8JPB8nitrdjkc9NEfo130_assertion ;
    np:hasProvenance dgn-np:NP297455.RAXSjgsTNv3Fn54UY0S0nazW18R8JPB8nitrdjkc9NEfo130_provenance ;
    np:hasPublicationInfo dgn-np:NP297455.RAXSjgsTNv3Fn54UY0S0nazW18R8JPB8nitrdjkc9NEfo130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP297455.RAXSjgsTNv3Fn54UY0S0nazW18R8JPB8nitrdjkc9NEfo130_assertion a np:Assertion .
  dgn-np:NP297455.RAXSjgsTNv3Fn54UY0S0nazW18R8JPB8nitrdjkc9NEfo130_provenance a np:Provenance .
  dgn-np:NP297455.RAXSjgsTNv3Fn54UY0S0nazW18R8JPB8nitrdjkc9NEfo130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP297455.RAXSjgsTNv3Fn54UY0S0nazW18R8JPB8nitrdjkc9NEfo130_assertion {
   miriam-gene:3949 a ncit:C16612 .
  lld:C0020443 a ncit:C7057 .
  dgn-gda:DGNbebb79c1175a2bbdc7f9b225d75285bd sio:SIO_000628 miriam-gene:3949 , lld:C0020443 ;
    a sio:SIO_001122 .
}
dgn-np:NP297455.RAXSjgsTNv3Fn54UY0S0nazW18R8JPB8nitrdjkc9NEfo130_provenance {
   dgn-np:NP297455.RAXSjgsTNv3Fn54UY0S0nazW18R8JPB8nitrdjkc9NEfo130_assertion dcterms:description "[Segregation analysis of the LDLR gene revealed statistically significant genetic linkage with hypercholesterolemia, and analysis of the proband LDLR gene led to the identification of the 664 proline to leucine defective mutation and its detection in all 6 hypercholesterolemic-related members of this family.]. 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:11031227 ;
    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:NP297455.RAXSjgsTNv3Fn54UY0S0nazW18R8JPB8nitrdjkc9NEfo130_publicationInfo {
   this: dcterms:created "2016-05-13T12:44:00+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" .
}