Bibliome.ai browser hg19
Search
About
Stats
FAQ
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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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