Varaico: Literature-Extracted Genetic Variants

Gene:GPNMB
Variant:p.V240delFs
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GPNMB

NM_002510.3:p.V240delFs

Associated Papers

Familial Amyloidosis Cutis Dyschromica with GPNMB mutation: A Case Report and Literature Review.

Untaaveesup S et al.

Acta Dermato-venereologica, 2025

Editorial: Genetic mutations in cutaneous malignancies and non-cutaneous diseases.

Paolino G et al.

Frontiers in Medicine, 2022

Functional Domains and Evolutionary History of the PMEL and GPNMB Family Proteins.

Chrystal PW et al.

Molecules (basel, Switzerland), 2021

Case Report: Amyloidosis Cutis Dyschromica: Dermoscopy and Reflectance Confocal Microscopy and Gene Mutation Analysis of a Chinese Pedigree.

Wang H et al.

Frontiers in Medicine, 2021

Three novel mutations in GPNMB in two pedigrees with amyloidosis cutis dyschromica.

Wang J et al.

The British Journal of Dermatology, 2019

Loss of GPNMB Causes Autosomal-Recessive Amyloidosis Cutis Dyschromica in Humans.

Yang CF et al.

American Journal of Human Genetics, 2018

Amyloidosis cutis dyschromica caused by compound heterozygous GPNMB mutations in a Chinese pedigree.

Zhong CJ et al.

Anais Brasileiros De Dermatologia, 0

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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."