Varaico: Literature-Extracted Genetic Variants

Gene:GPNMB
Variant:p.Y220*
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GPNMB

NM_002510.3:p.Y220*

Associated Papers

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

Untaaveesup S et al.

Acta Dermato-venereologica, 2025

T-cell acute lymphoblastic leukemia with a rare chromosomal translocation presenting as leukemia cutis.

Arora P et al.

International Journal of Dermatology, 2022

A homozygous Y131X GPNMB mutation in a Chinese family with amyloidosis cutis dyschromica.

Wang X et al.

International Journal of Dermatology, 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

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

Yang CF et al.

American Journal of Human Genetics, 2018

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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."