Varaico: Literature-Extracted Genetic Variants

Gene:CTSC
Variant:p.W423*
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CTSC

NM_001814.6:p.W423*

Associated Papers

Haim-Munk syndrome caused by mutation in the CTSC gene in an Indian consanguineous family.

Lalu M et al.

Indian Journal of Dermatology, Venereology and Leprology, 2025

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

Chitsamankhun C et al.

Journal of Translational Medicine, 2024

Functional Cathepsin C mutations cause different Papillon-Lefèvre syndrome phenotypes.

Noack B et al.

Journal of Clinical Periodontology, 2008

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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."