dgn-np:NP395476.RAdUAhPclwpY2xcOwfYFkxFfJ1-Pg3n1iOZZo-Gw3QImw130_provenance {
  dgn-np:NP395476.RAdUAhPclwpY2xcOwfYFkxFfJ1-Pg3n1iOZZo-Gw3QImw130_assertion dcterms:description "[Having found a nonsense mutation (c.111C>A; Y37X) and a splicing mutation (IVS2+1G>A) in the cationic trypsinogen gene (protease, serine, 1; PRSS1) in alcoholics without the development of CP, but not in alcoholics with CP and patients with hereditary or idiopathic CP, we propose that while gain of function mutations in the PRSS1 gene predispose one to pancreatitis, loss of function mutations in the gene may protect one against the disease.]. 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:12765848 ;
    prov:wasDerivedFrom dgn-void:befree-2016 ;
    prov:wasGeneratedBy eco:ECO_0000203 .
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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 .
}