Varaico: Literature-Extracted Genetic Variants

Gene:CTSC
Variant:p.R210delFs
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CTSC

NM_001814.6:p.R210delFs

Associated Papers

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

Chitsamankhun C et al.

Journal of Translational Medicine, 2024

Next-generation variant exon screening: Moving forward in routine genetic disease investigations.

Wang C et al.

Genetics in Medicine Open, 2024

39669605 (PubMed )
Supplement: mmc1.pdf

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

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