Varaico: Literature-Extracted Genetic Variants

Gene:CTSC
Variant:p.Y168*
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CTSC

NM_001814.6:p.Y168*

Associated Papers

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

Chitsamankhun C et al.

Journal of Translational Medicine, 2024

Two patients with Papillon-Lefèvre syndrome without periodontal involvement of the permanent dentition.

Umlauft J et al.

The Journal of Dermatology, 2021

Confirmation of oxidative stress and fatty acid disturbances in two further Papillon-Lefèvre syndrome families with identification of a new mutation.

Bullón P et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2014

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

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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."