Varaico: Literature-Extracted Genetic Variants

Gene:SERPINB7
Variant:p.C379Y
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SERPINB7

NM_003784.4:p.C379Y

Associated Papers

Functional Characterization of a Novel In-Frame Indel and a Founder Variant in SERPINB7 Associated With Palmoplantar Keratoderma.

Liu J et al.

The Journal of Dermatology, 2026

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

Kubo A

The Journal of Dermatology, 2025

Clinical and Genetic Findings in Patients With Palmoplantar Keratoderma.

Gram SB et al.

Jama Dermatology, 2025

39630431 (PubMed )
Supplement: jamadermatol-e244824-s001.pdf

Dupilumab treatment for Chinese Nagashima-type palmoplantar keratoderma associated with atopic dermatitis: a case report.

Hua C et al.

Frontiers in Immunology, 2025

The roles of serine protease inhibitors in dermatoses.

Xiao Z et al.

Frontiers in Genetics, 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

Investigation of Nagashima-type palmoplantar keratoderma in China: A cross-sectional study of 234 patients.

Liu J et al.

The Journal of Dermatology, 2023

FinnGen provides genetic insights from a well-phenotyped isolated population.

Kurki MI et al.

Nature, 2023

36653562 (PubMed )
Supplement: 41586_2022_5473_MOESM4_ESM.xlsx › Supplementary_Table_11

Three new founder mutations in Chinese patients with Nagashima-type palmoplantar keratoderma.

Liu J et al.

The British Journal of Dermatology, 2022

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

Hereditary palmoplantar keratoderma - phenotypes and mutations in 64 patients.

Harjama L et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2021

Updated allele frequencies of SERPINB7 founder mutations in Asian patients with Nagashima-type palmoplantar keratosis/keratoderma.

Ito Y et al.

Journal of Dermatological Science, 2021

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

Huang C et al.

Biomed Research International, 2021

Identification of a Rare Case With Nagashima-Type Palmoplantar Keratoderma and 18q Deletion Syndrome via Exome Sequencing and Low-Coverage Whole-Genome Sequencing.

Li Q et al.

Frontiers in Genetics, 2021

34616427 (PubMed )
Supplement: Data_Sheet_1.zip › All_the_Supplementary_Materials-2021-09-08 › Supplementary_Tables_and_Figures.docx

Nagashima-type palmoplantar keratosis in Finland caused by a SERPINB7 founder mutation.

Hannula-Jouppi K et al.

Journal of the American Academy of Dermatology, 2020

Nagashima-type palmoplantar keratosis in a Chinese Han population.

Zhang J et al.

Molecular Medicine Reports, 2016

Nagashima-Type Palmoplantar Keratosis with Compound Heterozygous Mutations in SERPINB7.

Songsantiphap C et al.

Case Reports in Dermatology, 0

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