dgn-np:NP122847.RAqZiwCegc5kWxqjPSkzRYUgKi_7CA7sSZh4P-vPufZeA130_provenance {
  dgn-np:NP122847.RAqZiwCegc5kWxqjPSkzRYUgKi_7CA7sSZh4P-vPufZeA130_assertion dcterms:description "[To assess the prevalence of different forms of OCA and different gene mutations among non-Hispanic Caucasian patients, we performed DNA sequence analysis of the four genes associated with classical OCA (TYR, OCA2, TYRP1, SLC45A2), the two principal genes associated with syndromic OCA (HPS1, HPS4), and a candidate OCA gene (SILV), in 121 unrelated, unselected non-Hispanic/Latino Caucasian patients carrying the clinical diagnosis of OCA.]. 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:18463683 ;
    prov:wasDerivedFrom dgn-void:gad-20150221 ;
    prov:wasGeneratedBy eco:ECO_0000203 .
  dgn-void:gad-20150221 pav:importedOn "2015-02-21"^^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 .
}