sub:provenance {
  sub:assertion dcterms:description "[In order to obtain a survey of the mutations being prevalent in Northern Germany and to enable molecular genetic testing for families with clinically diagnosed familial hypercholesterolemia (FH), we screened 46 unrelated German individuals with elevated LDL levels for mutations in the 18 exons and their flanking intron sequences including the promotor region of the LDL receptor (LDLR) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
    wi:evidence dgn-void:source_evidence_curated ;
    sio:SIO_000772 miriam-pubmed:10090484 ;
    prov:wasDerivedFrom dgn-void:UNIPROT ;
    prov:wasGeneratedBy eco:ECO_0000218 .
  dgn-void:UNIPROT pav:importedOn "2017-01-25"^^xsd:date .
  dgn-void:source_evidence_curated a eco:ECO_0000205 ;
    rdfs:comment "Gene-disease associations manually curated."@en ;
    rdfs:label "DisGeNET evidence - CURATED"@en .
}