Varaico: Literature-Extracted Genetic Variants

Gene:CPA1
Variant:p.Y308H
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CPA1

NM_001868.4:p.Y308H

Associated Papers

Hereditary pancreatitis with a N29I mutation in the PRSS1 (Trypsinogen) gene: A case report from India.

Rodrigues M et al.

Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology, 2025

Genetic Variability in the CPA1 Gene and Its Impact on Acute Pancreatitis Risk: New Insights from a Large-Scale Study.

Głuszek S et al.

International Journal of Molecular Sciences, 2024

Functional predictors of pathogenicity of missense CPA1 variants in chronic pancreatitis.

Sándor M et al.

Gut, 2024

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."