Varaico: Literature-Extracted Genetic Variants

Gene:CTSC
Variant:p.N276D
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CTSC

NM_001814.6:p.N276D

Associated Papers

Loss-of-function mutations in cathepsin C in two families with Papillon-Lefèvre syndrome are associated with deficiency of serine proteinases in PMNs.

de Haar SF et al.

Human Mutation, 2004

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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."