Varaico: Literature-Extracted Genetic Variants

Gene:CTSC
Variant:p.V249F
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CTSC

NM_001814.6:p.V249F

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

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

The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis.

Hewitt C et al.

Human Mutation, 2004

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: mutations and polymorphisms in the cathepsin C gene.

Nakano A et al.

The Journal of Investigative Dermatology, 2001

Identification of cathepsin C mutations in ethnically diverse papillon-Lefèvre syndrome patients.

Hart PS et al.

Journal of Medical Genetics, 2000

Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation.

Hart TC et al.

Journal of Medical Genetics, 2000

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis.

Toomes C et al.

Nature Genetics, 1999

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

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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."