GJB1 c.23C>T ;(p.T8I)

Variant ID: X-70443580-C-T

NM_000166.5(GJB1):c.23C>T;(p.T8I)

This variant was identified in 2 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: T8I
PubMed Link: 33359733
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic profile of Chinese patients with Charcot-Marie-Tooth disease.

Chinese Medical Journal
Ouyang, Zhi-Yuan ZY; Chen, You Y; Qin, Da-Qiang DQ; Cen, Zhi-Dong ZD; Zheng, Xiao-Sheng XS; Xie, Fei F; Chen, Si S; Wang, Hao-Tian HT; Yang, De-Hao DH; Chen, Xin-Hui XH; Wang, Le-Bo LB; Zhang, Bao-Rong BR; Luo, Wei W
Publication Date: 2020-11-05

Variant appearance in text: GJB1: 23C>T; T8I
PubMed Link: 32941234
Variant Present in the following documents:
  • Main text
  • cm9-133-2633.pdf
View BVdb publication page