GJB1 c.459T>G ;(p.F153L)

Variant ID: X-70444016-T-G

NM_000166.5(GJB1):c.459T>G;(p.F153L)

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: F153L
PubMed Link: 33359733
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan.

Annals Of Clinical And Translational Neurology
Hsu, Yun-Hsin YH; Lin, Kon-Ping KP; Guo, Yuh-Cherng YC; Tsai, Yu-Shuen YS; Liao, Yi-Chu YC; Lee, Yi-Chung YC
Publication Date: 2019-06

Variant appearance in text: GJB1: F153L
PubMed Link: 31211173
Variant Present in the following documents:
  • Main text
  • ACN3-6-1090.pdf
View BVdb publication page