Varaico: Literature-Extracted Genetic Variants

Gene:CTSC
Variant:p.Y168C
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CTSC

NM_001814.6:p.Y168C

Associated Papers

Cathepsin C in health and disease: from structural insights to therapeutic prospects.

Chitsamankhun C et al.

Journal of Translational Medicine, 2024

A rare CTSC mutation in Papillon-Lefèvre Syndrome results in abolished serine protease activity and reduced NET formation but otherwise normal neutrophil function.

Sanchez Klose FP et al.

Plos One, 2021

Palmoplantar keratoderma, oral involvement, and homozygous CTSC mutation in two brothers from Cambodia.

Wei H et al.

American Journal of Medical Genetics. Part A, 2020

Processing and Maturation of Cathepsin C Zymogen: A Biochemical and Molecular Modeling Analysis.

Lamort AS et al.

International Journal of Molecular Sciences, 2019

Papillon-Lefèvre syndrome patient reveals species-dependent requirements for neutrophil defenses.

Sørensen OE et al.

The Journal of Clinical Investigation, 2014

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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."