GJB1 c.22A>T ;(p.T8S)

Variant ID: X-70443579-A-T

NM_000166.5(GJB1):c.22A>T;(p.T8S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: 22A>T; T8S
PubMed Link: 32941234
Variant Present in the following documents:
  • Main text
  • cm9-133-2633.pdf
View BVdb publication page