Varaico: Literature-Extracted Genetic Variants

Gene:SERPINB7
Variant:p.V175fs
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SERPINB7

NM_003784.4:p.V175fs

Associated Papers

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

Liu J et al.

The Journal of Dermatology, 2023

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

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

Isolated hereditary diffuse palmoplantar keratoderma in Hong Kong Chinese patients: a case series.

Yu PT et al.

Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2021

Hereditary palmoplantar keratoderma - phenotypes and mutations in 64 patients.

Harjama L et al.

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

A heterozygous SERPINB7 mutation is a possible modifying factor for epidermolytic palmoplantar keratoderma.

Yoshikawa T et al.

Journal of Dermatological Science, 2020

Identification of SERPINB7 mutations in Korean patients with Nagashima-type palmoplantar keratosis.

On HR et al.

The Journal of Dermatology, 2017

Novel frame-shift mutation in SERPINB7 in a Japanese patient with Nagashima-type palmoplantar keratosis.

Nakajima K et al.

The Journal of Dermatology, 2017

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

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

Songsantiphap C et al.

Case Reports in Dermatology, 0

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