dgn-np:NP20619.RA_D9SQHuM0vC0g37jwrtUh1WYBOOqOwZJiU20Qs8G4fw130_provenance {
  dgn-np:NP20619.RA_D9SQHuM0vC0g37jwrtUh1WYBOOqOwZJiU20Qs8G4fw130_assertion dcterms:description "[All four mutations lie within conserved regions of the gene and cause translational frameshifts, resulting in gross alterations of the protein product Patients with cytogenetically detectable deletions including JAG1 have Alagille syndrome, supporting the hypothesis that haploinsufficiency for this gene is one of the mechanisms causing the Alagille syndrome phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
    wi:evidence dgn-void:source_evidence_curated ;
    sio:SIO_000772 miriam-pubmed:9207788 ;
    prov:wasDerivedFrom dgn-void:ctd_human-20130708 ;
    prov:wasGeneratedBy eco:ECO_0000218 .
  dgn-void:ctd_human-20130708 pav:importedOn "2013-07-24"^^xsd:date .
  dgn-void:source_evidence_curated a eco:ECO_0000205 ;
    rdfs:comment "Gene-disease associations manually curated."@en ;
    rdfs:label "DisGeNET evidence - CURATED"@en .
}