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AlphaMissense versus laboratory-based pathogenicity prediction of 13 novel missense CPA1 variants from pancreatitis

Máté Sándor1, Isabelle Scheers2, Atsushi Masamune3

  • 1Department of Surgery, University of California Los Angeles, Los Angeles, California, USA.

Gut
|September 10, 2024
PubMed
Abstract

No abstract available in PubMed .

Keywords:
CHRONIC PANCREATITISGENETIC TESTINGPANCREATIC DISORDERS

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Chronic Pancreatitis I: Introduction01:25

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Chronic pancreatitis is a long-standing, relapsing inflammation of the pancreas, characterized by irreversible damage to the gland. It results in progressive destruction of the pancreatic parenchyma, fibrosis, and eventual loss of both exocrine and endocrine function. The disease may evolve gradually after multiple episodes of acute pancreatitis or develop independently.EtiologyChronic pancreatitis can arise from a variety of causes:Alcohol use is the leading cause, accounting for 70–80% of...

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