Varaico: Literature-Extracted Genetic Variants

Gene:CTSC
Variant:p.E268K
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CTSC

NM_001814.6:p.E268K

Associated Papers

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

Chitsamankhun C et al.

Journal of Translational Medicine, 2024

First case of symmetrical acral keratoderma in Japan with filaggrin mutation who showed marked improvement in skin manifestations using moisturizer.

Akaji K et al.

The Journal of Dermatology, 2020

Japanese case of Papillon-Lefèvre syndrome with novel compound heterozygous mutations.

Hayashi M et al.

The Journal of Dermatology, 2020

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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."