Varaico: Literature-Extracted Genetic Variants

Gene:CTRC
Variant:p.G217R
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CTRC

NM_007272.3:p.G217R

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

Scale and Scope of Gene-Alcohol Interactions in Chronic Pancreatitis: A Systematic Review.

Chen JM et al.

Genes, 2021

33806082 (PubMed )
Supplement: genes-12-00471-s001.pdf

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

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

Sahin-Tóth M

Current Opinion in Gastroenterology, 2017

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

Beer S et al.

Gut, 2013

A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients.

Masson E et al.

Plos One, 2013

Chymotrypsin C mutations in chronic pancreatitis.

Zhou J et al.

Journal of Gastroenterology and Hepatology, 2011

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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