Varaico: Literature-Extracted Genetic Variants

Gene:CTRC
Variant:p.N263S
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CTRC

NM_007272.3:p.N263S

Associated Papers

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6

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

Cronkhite-Canada syndrome complicated with three malignant tumors: a case report and whole exome sequencing analysis.

Liu S et al.

Chinese Medical Journal, 2019

31764169 (PubMed )
Supplement: cm9-132-3001-s001.xlsx › Supplementary_Table_1

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

Beer S et al.

Gut, 2013

Association of novel chymotrypsin C gene variations and haplotypes in patients with chronic pancreatitis in Chinese in Taiwan.

Chang MC et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2009

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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."