Varaico: Literature-Extracted Genetic Variants

Gene:CTSC
Variant:p.Y304*
Back to variants list

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

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

CTSC compound heterozygous mutations in two Chinese patients with Papillon-Lefèvre syndrome.

Wu Y et al.

Oral Diseases, 2019

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

CTSC and Papillon-Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database update.

Nagy N et al.

Molecular Genetics & Genomic Medicine, 2014

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

Novel cathepsin C mutation in a Brazilian family with Papillon-Lefèvre syndrome: case report and mutation update.

Pallos D et al.

Journal of Dentistry for Children (chicago, Ill.), 0

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

Ragunatha S et al.

Pediatric Dermatology, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."