Varaico: Literature-Extracted Genetic Variants

Gene:CTRC
Variant:p.K172E
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CTRC

NM_007272.3:p.K172E

Associated Papers

Impact of Gene Modifiers on Cystic Fibrosis Phenotypic Profiles: A Systematic Review.

Ward A et al.

Human Mutation, 2024

Clinical interpretation of SPINK1 and CTRC variants in pancreatitis.

Girodon E et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2020

Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis.

Sofia VM et al.

Molecular Medicine (cambridge, Mass.), 2018

Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis.

Sofia VM et al.

Molecular Medicine (cambridge, Mass.), 2016

Genetic and electrophysiological characteristics of recurrent acute pancreatitis.

Werlin S et al.

Journal of Pediatric Gastroenterology and Nutrition, 2015

Comprehensive screening of chymotrypsin C (CTRC) gene in tropical calcific pancreatitis identifies novel variants.

Paliwal S et al.

Gut, 2013

Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk.

Beer S et al.

Gut, 2013

Chymotrypsin C mutations in chronic pancreatitis.

Zhou J et al.

Journal of Gastroenterology and Hepatology, 2011

Tropical calcific pancreatitis and its association with CTRC and SPINK1 (p.N34S) variants.

Derikx MH et al.

European Journal of Gastroenterology & Hepatology, 2009

Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis.

Masson E et al.

Human Genetics, 2008

Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis.

Rosendahl J et al.

Nature Genetics, 2008

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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."