Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP862227.RAhsJQk3Ccv9sO1_yn6-Yns8Klsm6yRxs3FvEspXvBhnc#assertion> ?p ?o ?g. }
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- assertion description "[We identified a PRNP Y163X truncation mutation and describe a distinct and consistent phenotype of chronic diarrhea with autonomic failure and a length-dependent axonal, predominantly sensory, peripheral polyneuropathy with an onset in early adulthood.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 24224623 provenance.
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- assertion wasGeneratedBy ECO_0000203 provenance.