Publications:

New evidence for secondary axonal degeneration in demyelinating neuropathies.

Neuroscience Letters

Moss, Kathryn R KR; Bopp, Taylor S TS; Johnson, Anna E AE; Höke, Ahmet A

Publication Date: 2021-01-23

Variant appearance in text: GJB1: I202D

PubMed Link: 33359733

Variant Present in the following documents:

• Main text

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A novel GJB1 mutation associated with X-linked Charcot-Marie-Tooth disease in a large Chinese family pedigree.

Molecular Genetics & Genomic Medicine

Liu, Yingdi Y; Xue, Jinjie J; Li, Zhuo Z; Linpeng, Siyuan S; Tan, Hu H; Teng, Yanling Y; Liang, Desheng D; Wu, Lingqian L

Publication Date: 2020-03

Variant appearance in text: GJB1: Ile202Asp

PubMed Link: 31943912

Variant Present in the following documents:

• Main text
• MGG3-8-e1127.pdf

View BVdb publication page