Varaico: Literature-Extracted Genetic Variants

Gene:CTSC
Variant:p.W185*
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CTSC

NM_001814.6:p.W185*

Associated Papers

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

Chitsamankhun C et al.

Journal of Translational Medicine, 2024

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

33949806 (PubMed )
Supplement: MGG3-9-e1686-s002.docx

Inherited diseases caused by mutations in cathepsin protease genes.

Ketterer S et al.

The Febs Journal, 2017

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

The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis.

Hewitt C et al.

Human Mutation, 2004

Mutation analysis of the cathepsin C gene in Indian families with Papillon-Lefèvre syndrome.

Selvaraju V et al.

Bmc Medical Genetics, 2003

Identification of a novel cathepsin C mutation (p.W185X) in a Brazilian kindred with Papillon-Lefèvre syndrome.

Hart PS et al.

Molecular Genetics and Metabolism, 2002

Novel cathepsin C mutation in a Brazilian family with Papillon-Lefèvre syndrome: case report and mutation update.

Pallos D et al.

Journal of Dentistry for Children (chicago, Ill.), 0

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