Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP206896.RAfwXNcU0eqEi7_uwPmZIXHrxieU9CUIAFW9OtEnUSm_I#assertion> ?p ?o ?g. }
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- assertion description "[CEL-maturity onset diabetes of the young (MODY), diabetes with pancreatic lipomatosis and exocrine dysfunction, is due to dominant frameshift mutations in the acinar cell carboxyl ester lipase gene (CEL).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 21784842 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.