Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA12
Variant:p.D219G
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SERPINA12

NM_001382267.1:p.D219G

Associated Papers

Estimating the proportions of allele frequencies for SERPINA12 pathogenic variants in Japanese patients with Nagashima-type palmoplantar keratosis/keratoderma.

Ebata A et al.

The British Journal of Dermatology, 2025

The roles of serine protease inhibitors in dermatoses.

Xiao Z et al.

Frontiers in Genetics, 2025

Potential digenic inheritance of SERPINB7 and SERPINA12 variants in Chinese patients with Nagashima-type palmoplantar keratosis.

Liu Y et al.

The British Journal of Dermatology, 2024

A novel SERPINA12 variant and first European patients with diffuse palmoplantar keratoderma.

Brandt E et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2024

Novel and founder variants of SERPINA12 in Chinese patients with autosomal recessive palmoplantar keratoderma.

Liu Y et al.

The British Journal of Dermatology, 2022

Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta.

Parry DA et al.

American Journal of Human Genetics, 2016

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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."