Article
Novel chymotrypsin C (CTRC) variants from real-world genetic testing of pediatric chronic pancreatitis cases.
Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] - 1 Aug 2024
Stefanovics Regina, Sándor Máté, Demcsák Alexandra, Berke Gergő, Németh Balázs Csaba, Zhang Wenying, Abu-El-Haija Maisam, Sahin-Tóth Miklós
Abstract excerpt
BACKGROUND: Chymotrypsin C (CTRC) protects the pancreas against unwanted intrapancreatic trypsin activity through degradation of trypsinogen. Loss-of-function CTRC variants increase the risk for chronic pancreatitis (CP). The aim of the present study was to characterize novel CTRC variants found during genetic testing of CP cases at a pediatric pancreatitis center. METHODS: We used next-generation sequencing to...
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