Varaico: Literature-Extracted Genetic Variants

Gene:CTSC
Variant:p.Q182*
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CTSC

NM_001814.6:p.Q182*

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

A novel large deletion combined with a nonsense mutation in a Chinese child with Papillon-Lefèvre syndrome.

Wu W et al.

Journal of Periodontal Research, 2016

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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."