Varaico: Literature-Extracted Genetic Variants

Gene:SERPINB7
Variant:p.S217fs
Back to variants list

SERPINB7

NM_003784.4:p.S217fs

Associated Papers

Heterozygous Pathogenic Variants in SERPINB7 Potentially Associated With Concomitant Moyamoya Angiopathy and Nagashima-Type Palmoplantar Keratoderma.

Kazerooni L et al.

American Journal of Medical Genetics. Part A, 2025

A deep intronic founder variant in the SERPINB7 gene causing aberrant splicing is a potential therapeutic target for Nagashima-type palmoplantar keratoderma.

Chen Y et al.

Journal of Dermatological Science, 2025

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

Liu J et al.

The Journal of Dermatology, 2023

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

[Nagashima-type palmoplantar keratoderma: A little-known palmoplantar keratoderma in Europe].

Chassain K et al.

Annales De Dermatologie Et De Venereologie, 2019

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

Li CX et al.

Clinical and Experimental 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

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

Songsantiphap C et al.

Case Reports in Dermatology, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."