Varaico: Literature-Extracted Genetic Variants

Gene:SERPINB7
Variant:p.P277L
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SERPINB7

NM_003784.4:p.P277L

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

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

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 keratoderma and malignant melanoma in Japanese patients.

Korekawa A et al.

The British Journal of Dermatology, 2019

A novel frameshift SERPINB7 mutation in a Chinese case with Nagashima-type palmoplantar keratosis: case report and review of the literature.

Hua S et al.

Clinical and Experimental Dermatology, 2018

Novel nonsense mutation in SERPINB7 and the treatment of foot odor in a patient with Nagashima-type palmoplantar keratosis.

Katsuno M et al.

The Journal of Dermatology, 2017

Detection of SERPINB7 mutation can distinguish Nagashima-type palmoplantar keratoderma from other keratodermas with palmoplantar lesions.

Hashimoto T et al.

Clinical and Experimental Dermatology, 2017

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

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

Songsantiphap C et al.

Case Reports in Dermatology, 0

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