Varaico: Literature-Extracted Genetic Variants

Gene:CTRC
Variant:p.R240Q
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CTRC

NM_007272.3:p.R240Q

Associated Papers

Pancreatitis-associated chymotrypsin C (CTRC) variant p.R240Q selectively impairs trypsinogen degradation through disruption of long-range electrostatic interactions.

Nagy ZA et al.

Scientific Reports, 2026

Novel method for retrieving Santorini duct stones from a patient with a rare chymotrypsin C variant combined with pancreas divisum.

Li G et al.

Endoscopy, 2024

Clinical and Genetic Description of Hereditary Chronic Pancreatitis in Pakistani Children.

Cheema HA et al.

The Turkish Journal of Gastroenterology : the Official Journal of Turkish Society of Gastroenterology, 2023

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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."