Varaico: Literature-Extracted Genetic Variants

Gene:CTSC
Variant:p.Y304*
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CTSC

NM_001814.6:p.Y304*

Associated Papers

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

Chitsamankhun C et al.

Journal of Translational Medicine, 2024

Consequences of cathepsin C inactivation for membrane exposure of proteinase 3, the target antigen in autoimmune vasculitis.

Seren S et al.

The Journal of Biological Chemistry, 2018

A novel mutation of the cathepsin C gene in a thai family with Papillon-Lefevre syndrome.

Nitta H et al.

Journal of Periodontology, 2005

Mutation analysis of the cathepsin C gene in Indian families with Papillon-Lefèvre syndrome.

Selvaraju V et al.

Bmc Medical Genetics, 2003

Papillon-Lefèvre syndrome with homozygous nonsense mutation of cathepsin C gene presenting with late-onset periodontitis.

Ragunatha S et al.

Pediatric Dermatology, 0

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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."