Varaico: Literature-Extracted Genetic Variants

Gene:SERPINB7
Variant:p.Q73Fs
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SERPINB7

NM_003784.4:p.Q73Fs

Associated Papers

History and prospects of Nagashima-type palmoplantar keratosis, the most common palmoplantar keratoderma in east Asian populations.

Kubo A

The Journal of Dermatology, 2025

SERPINB7 Deficiency Increases Legumain Activity and Impairs the Epidermal Barrier in Nagashima-Type Palmoplantar Keratoderma.

Li S et al.

The Journal of Investigative Dermatology, 2025

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

Two novel mutations of SERPINB7 in eight cases of Nagashima-type palmoplantar keratosis in the Chinese population.

Xiao T et al.

The Journal of Dermatology, 2022

Nagashima-Type Palmoplantar Keratosis: Clinical Characteristics, Genetic Characterization, and Clinical Management.

Huang C et al.

Biomed Research International, 2021

A sporadic case of Nagashima-type palmoplantar keratosis caused by gene mutation in SERPINB7.

Li CX et al.

Clinical and Experimental Dermatology, 2016

Identification and Characterization of a Recessive Missense Mutation p.P277L in SERPINB7 in Nagashima-Type Palmoplantar Keratosis.

Shiohama A et al.

The Journal of Investigative Dermatology, 2016

Identification of previously unknown SERPINB7 splice variants in patients with Nagashima-type palmoplantar keratosis reveals the importance of the CD-loop of SERPINB7.

Suzuki S et al.

The British Journal of Dermatology, 2015

Highly prevalent SERPINB7 founder mutation causes pseudodominant inheritance pattern in Nagashima-type palmoplantar keratosis.

Mizuno O et al.

The British Journal of Dermatology, 2014

Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis.

Kubo A et al.

American Journal of Human Genetics, 2013

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