Varaico: Literature-Extracted Genetic Variants

Gene:CTRC
Variant:p.W55*
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CTRC

NM_007272.3:p.W55*

Associated Papers

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.

Bhérer C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants

Diagnostic yield of repeat genetic testing in idiopathic chronic pancreatitis.

Dermine S et al.

Clinics and Research in Hepatology and Gastroenterology, 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

Do CTRC mutations affect the development of alcoholic chronic pancreatitis and its course among Poles: Preliminary study.

Cichoż-Lach H et al.

Advances in Clinical and Experimental Medicine : Official Organ Wroclaw Medical University, 2019

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

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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."