Varaico: Literature-Extracted Genetic Variants

Gene:CELA3B
Variant:p.R90L
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CELA3B

NM_007352.4:p.R90L

Associated Papers

Loss-of-function variant in chymotrypsin like elastase 3B (CELA3B) is associated with non-alcoholic chronic pancreatitis.

Tóth A et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2022

The reversion variant (p.Arg90Leu) at the evolutionarily adaptive p.Arg90 site in CELA3B predisposes to chronic pancreatitis.

Masson E et al.

Human Mutation, 2021

Elastase 3B mutation links to familial pancreatitis with diabetes and pancreatic adenocarcinoma.

Moore PC et al.

The Journal of Clinical Investigation, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."