Publications:

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

Frontiers In Medicine

Wang, Hui H; Zhong, Zhenyu Z; Wang, Xiuli X; Zheng, Liyun L; Wang, Yifan Y; Wang, Shan S; Liu, Siqi S; Li, Hui H; Guo, Ze Z; Gao, Min M

Publication Date: 2021

Variant appearance in text: GPNMB: 660T>G

PubMed Link: 34926516

Variant Present in the following documents:

• Main text
• fmed-08-774266.pdf

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

Molecules (Basel, Switzerland)

Chrystal, Paul W PW; Footz, Tim T; Hodges, Elizabeth D ED; Jensen, Justin A JA; Walter, Michael A MA; Allison, W Ted WT

Publication Date: 2021-06-09

Variant appearance in text: GPNMB: 660T>G; Tyr220Ter

PubMed Link: 34207849

Variant Present in the following documents:

• Main text
• molecules-26-03529.pdf

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: GPNMB: 660T>G; Tyr220Ter; rs770211260

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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

American Journal Of Human Genetics

Yang, Chi-Fan CF; Lin, Shuan-Pei SP; Chiang, Chien-Ping CP; Wu, Yu-Hung YH; H'ng, Weng Siong WS; Chang, Chun-Ping CP; Chen, Yuan-Tsong YT; Wu, Jer-Yuarn JY

Publication Date: 2018-02-01

Variant appearance in text: GPNMB: 660T>G

PubMed Link: 29336782

Variant Present in the following documents:

• Main text

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