Varaico: Literature-Extracted Genetic Variants

Gene:CTSC
Variant:p.C255R
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CTSC

NM_001814.6:p.C255R

Associated Papers

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

Chitsamankhun C et al.

Journal of Translational Medicine, 2024

Novel Compound Heterozygous Mutations in CTSC Gene in a Chinese Family with Papillon-Lefevre Syndrome.

Wang Y et al.

Annals of Dermatology, 2021

A novel missense variant in cathepsin C gene leads to PLS in a Chinese patient: A case report and literature review.

Yu H et al.

Molecular Genetics & Genomic Medicine, 2021

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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."