Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP975845.RAGB4enTeoUtkD2HrFpaJ4gDNexhXynBMna1eJh2T2fFY#assertion> ?p ?o ?g. }
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- assertion description "[in the investigated Finnish pedigree with hereditary pancreatitis, the PRSS1 mutation R122H is linked with chronic disease; although the SPINK1 mutation (N34S) was also observed in two individuals, it was not linked with the disease]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 17613931 provenance.
- assertion wasDerivedFrom LHGDN provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.