GJB1 c.563C>T ;(p.T188I)

Variant ID: X-70444120-C-T

NM_000166.5(GJB1):c.563C>T;(p.T188I)

This variant was identified in 3 publications

View GRCh38 version.




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: T188I
PubMed Link: 33359733
Variant Present in the following documents:
  • Main text
View BVdb publication page



Systematic review of CMTX1 patients with episodic neurological dysfunction.

Annals Of Clinical And Translational Neurology
Tian, Dandan D; Zhao, Yating Y; Zhu, Ruixia R; Li, Qu Q; Liu, Xu X
Publication Date: 2021-01

Variant appearance in text: CMTX1: Thr188Ile
PubMed Link: 33314704
Variant Present in the following documents:
  • Main text
  • ACN3-8-213.pdf
View BVdb publication page



Recurrent episodes of reversible posterior leukoencephalopathy in three Chinese families with GJB1 mutations in X-linked Charcot-Marie-tooth type 1 disease: cases report.

Bmc Neurology
Liang, Youlong Y; Liu, Jingli J; Cheng, Daobin D; Wu, Yu Y; Mo, Liuhong L; Huang, Wen W
Publication Date: 2019-12-16

Variant appearance in text: GJB1: 563C>T
PubMed Link: 31842800
Variant Present in the following documents:
  • Main text
  • 12883_2019_Article_1563.pdf
View BVdb publication page