dgn-np:NP55442.RA3T2mz5pHd6x5zWXhGNA-F7IG_sYU7QmR8U0lJJWhoqs130_provenance {
  dgn-np:NP55442.RA3T2mz5pHd6x5zWXhGNA-F7IG_sYU7QmR8U0lJJWhoqs130_assertion dcterms:description "[ Our screening approach is not effective and, at least in our area, it is not a suitable alternative to the more expensive and time-consuming sequencing approach. However, our data suggest that it is possible to identify the molecular defect in about 10% of Sicilian patients with a clinical diagnosis of probable FH using a rapid laboratory diagnostic mutation panel. Four mutations were responsible for all of the diagnosed cases, and it could be reasonable to use this 4-mutation panel as a preliminary step before adopting a more complex laboratory approach.]. 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:12055704 ;
    prov:wasDerivedFrom dgn-void:gad-20130706 ;
    prov:wasGeneratedBy eco:ECO_0000203 .
  dgn-void:gad-20130706 pav:importedOn "2013-07-06"^^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 .
}