GJB1 c.115G>T ;(p.A39S)

Variant ID: X-70443672-G-T

NM_000166.5(GJB1):c.115G>T;(p.A39S)

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: A39S
PubMed Link: 33359733
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease.

Chinese Medical Journal
Lu, Yuan-Yuan YY; Lyu, He H; Jin, Su-Qin SQ; Zuo, Yue-Huan YH; Liu, Jing J; Wang, Zhao-Xia ZX; Zhang, Wei W; Yuan, Yun Y
Publication Date: 2017-05-05

Variant appearance in text: GJB1: 115G>T; A39S
PubMed Link: 28469099
Variant Present in the following documents:
  • CMJ-130-1049.pdf
View BVdb publication page