Varaico: Literature-Extracted Genetic Variants

Gene:CTSC
Variant:p.G349delFs
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CTSC

NM_001814.6:p.G349delFs

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 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

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

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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."