Varaico: Literature-Extracted Genetic Variants

Gene:CPA1
Variant:p.R237H
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CPA1

NM_001868.4:p.R237H

Associated Papers

Strengths and limitations of AlphaMissense in CPA1 missense variant classification.

Wang YH et al.

Gut, 2024

No significant enrichment of rare functionally defective CPA1 variants in a large Chinese idiopathic chronic pancreatitis cohort.

Wu H et al.

Human Mutation, 2017

Variants in pancreatic carboxypeptidase genes CPA2 and CPB1 are not associated with chronic pancreatitis.

Nakano E et al.

American Journal of Physiology. Gastrointestinal and Liver Physiology, 2015

Genetics of pancreatitis: the 2014 update.

Masamune A

The Tohoku Journal of Experimental Medicine, 2014

Variants in CPA1 are strongly associated with early onset chronic pancreatitis.

Witt H et al.

Nature Genetics, 2013

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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."