GJB1 c.6C>A ;(p.N2K)

Variant ID: X-70443563-C-A

NM_000166.5(GJB1):c.6C>A;(p.N2K)

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: N2K
PubMed Link: 33359733
Variant Present in the following documents:
  • Main text
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: N2K
PubMed Link: 27098783
Variant Present in the following documents:
  • CMJ-129-1011.pdf
View BVdb publication page