dgn-np:NP692374.RAPQ6YndvJwgG3boQrjB_QD1xiBDRXBE7LZzawBBTftOw130_provenance {
  dgn-np:NP692374.RAPQ6YndvJwgG3boQrjB_QD1xiBDRXBE7LZzawBBTftOw130_assertion dcterms:description "[Dominant RP1 alleles typically have premature nonsense codons occurring in the last exon of the gene and would be expected to encode mutant proteins that are only approximately one third the size of the wild-type protein, suggesting that a dominant negative effect rather than haploinsufficiency is the mechanism leading to RP caused by RP1 mutations.]. 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:11527933 ;
    prov:wasDerivedFrom dgn-void:befree-20150227 ;
    prov:wasGeneratedBy eco:ECO_0000203 .
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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 .
}