Functional predictors of pathogenicity of missense CPA1 variants in chronic pancreatitis

Abstract excerpt

We read with great interest the recent article by Zhu et al. [1], demonstrating that misfolding of pancreatic lipase due to an inborn mutation causes chronic pancreatitis (CP).Variants in the CPA1 gene, encoding procarboxypeptidase A1, can elicit CP by the same mechanism, however, not all variants are alike, and correct prediction of benign versus pathogenic behavior has been challenging.In 2013, rare...

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