GJB1 c.44G>T ;(p.R15L)

Variant ID: X-70443601-G-T

NM_000166.5(GJB1):c.44G>T;(p.R15L)

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: R15L
PubMed Link: 33359733
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cross-Sectional Study in a Large Cohort of Chinese Patients With GJB1 Gene Mutations.

Frontiers In Neurology
Liu, Xiaoxuan X; Duan, Xiaohui X; Zhang, Yingshuang Y; Sun, Aping A; Fan, Dongsheng D
Publication Date: 2020

Variant appearance in text: CMTX1: R15L
PubMed Link: 32903794
Variant Present in the following documents:
  • Main text
  • fneur-11-00690.pdf
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: 44G>T; R15L
PubMed Link: 28469099
Variant Present in the following documents:
  • CMJ-130-1049.pdf
View BVdb publication page