Varaico: Literature-Extracted Genetic Variants

Gene:KLK11
Variant:p.G50E
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KLK11

NM_144947.3:p.G50E

Associated Papers

KLK11-Related Disorder of Cornification Presenting as Inflammatory Skin Disease: A Familial Case Report and Literature Review.

Eiumtrakul W et al.

American Journal of Medical Genetics. Part A, 2025

Variants in KLK11, affecting signal peptide cleavage of kallikrein-related peptidase 11, cause an autosomal-dominant cornification disorder.

Gong Z et al.

The British Journal of Dermatology, 2023

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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."