dgn-np:NP55940.RAA2CKEmpDU8nlawrC7FBxuzBngzIzR4cvsFHeBFbF8FI130_provenance {
  dgn-np:NP55940.RAA2CKEmpDU8nlawrC7FBxuzBngzIzR4cvsFHeBFbF8FI130_assertion dcterms:description "[ IMPDH1 mutations account for approximately 2% of cases of dominant RP in North America. The most frequent mutation, Asp226Asn, appears to cause at least as much loss of rod function as cone function. Patients with this form of RP retain, on average, two to five times more ERG amplitude per unit of remaining visual area than patients with three other forms of dominant RP.]. 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:15851576 ;
    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 .
}