dgn-np:NP43886.RApI2XxvOvnO66XpSDtLGVl08f0SpKrtWkWi7rTIGi4Vw130_provenance {
  dgn-np:NP43886.RApI2XxvOvnO66XpSDtLGVl08f0SpKrtWkWi7rTIGi4Vw130_assertion dct:description "[ The Pro 23 His and Pro 347 Leu mutations in the rhodopsin gene are representative mutations for ADRP in other countries, but the mutation in the rhodopsin gene is very rare in Japanese patients with ADRP. On the other hand, a novel 208 delG mutation in the FSCN 2 gene was identified in 14 patients from 4 Japanese families with ADRP. This mutation was found in 3.3% of patients with ADRP, which suggests that this mutation might be relatively common and characteristic in Japanese patients with ADRP.]. 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:14661542 ;
    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 .
}