GJB1 c.533A>G ;(p.D178G)

Variant ID: X-70444090-A-G

NM_000166.5(GJB1):c.533A>G;(p.D178G)

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: D178G
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: 533A>G; D178G
PubMed Link: 28469099
Variant Present in the following documents:
  • CMJ-130-1049.pdf
View BVdb publication page



Mutation Analysis of Gap Junction Protein Beta 1 and Genotype-Phenotype Correlation in X-linked Charcot-Marie-Tooth Disease in Chinese Patients.

Chinese Medical Journal
Sun, Bo B; Chen, Zhao-Hui ZH; Ling, Li L; Li, Yi-Fan YF; Liu, Li-Zhi LZ; Yang, Fei F; Huang, Xu-Sheng XS
Publication Date: 2016-05-05

Variant appearance in text: GJB1: D178G
PubMed Link: 27098783
Variant Present in the following documents:
  • CMJ-129-1011.pdf
View BVdb publication page