Varaico: Literature-Extracted Genetic Variants

Gene:CPA1
Variant:p.R27*
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CPA1

NM_001868.4:p.R27*

Associated Papers

Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali.

Yalcouyé A et al.

Hgg Advances, 2025

39663698 (PubMed )
Supplement: mmc3.pdf

Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.

Zimmermann MT et al.

Frontiers in Oncology, 2021

Most unambiguous loss-of-function CPA1 mutations are unlikely to predispose to chronic pancreatitis.

Lin JH et al.

Gut, 2020

Genetic risk in chronic pancreatitis: the misfolding-dependent pathway.

Sahin-Tóth M

Current Opinion in Gastroenterology, 2017

Whole Genome Sequencing Defines the Genetic Heterogeneity of Familial Pancreatic Cancer.

Roberts NJ et al.

Cancer Discovery, 2016

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."