Publications:

Novel mutations in GJB1 trigger intracellular aggregation and stress granule formation in X-linked Charcot-Marie-Tooth Disease.

Frontiers In Neuroscience

Chu, Fan F; Xu, Jiaming J; Wang, Yong Y; Li, Yingjie Y; Wang, Yaling Y; Liu, Zhijun Z; Li, Chuanzhou C

Publication Date: 2022

Variant appearance in text: GJB1: 469T>C

PubMed Link: 36225735

Variant Present in the following documents:

• Main text
• fnins-16-972288.pdf

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Improving molecular diagnosis of Chinese patients with Charcot-Marie-Tooth by targeted next-generation sequencing and functional analysis.

Oncotarget

Li, Li-Xi LX; Zhao, Shao-Yun SY; Liu, Zhi-Jun ZJ; Ni, Wang W; Li, Hong-Fu HF; Xiao, Bao-Guo BG; Wu, Zhi-Ying ZY

Publication Date: 2016-05-10

Variant appearance in text: GJB1: 469T>C; Y157H

PubMed Link: 27027447

Variant Present in the following documents:

• Main text
• oncotarget-07-27655-s001.pdf
• oncotarget-07-27655.pdf

View BVdb publication page