Fig. 2From: Expanding ACMG variant classification guidelines into a general frameworkIllustration of the cellular locations of PRSS1, CFTR, CTRC and SPINK1 within the exocrine pancreas and the pathological mechanisms underlying the chronic pancreatitis-related variants in the corresponding genes. ER endoplasmic reticulum, GoF gain-of-function, LoF loss-of-function, GoP gain-of-proteotoxicityBack to article page