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GJB1 c.23C>T ;(p.T8I)
Variant ID: X-70443580-C-T
NM_000166.5(
GJB1
):c.23C>T;(p.T8I)
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: T8I
PubMed Link:
33359733
Variant Present in the following documents:
Main text
View BVdb publication page
Genetic profile of Chinese patients with Charcot-Marie-Tooth disease.
Chinese Medical Journal
Ouyang, Zhi-Yuan ZY; Chen, You Y; Qin, Da-Qiang DQ; Cen, Zhi-Dong ZD; Zheng, Xiao-Sheng XS; Xie, Fei F; Chen, Si S; Wang, Hao-Tian HT; Yang, De-Hao DH; Chen, Xin-Hui XH; Wang, Le-Bo LB; Zhang, Bao-Rong BR; Luo, Wei W
Publication Date: 2020-11-05
Variant appearance in text: GJB1: 23C>T; T8I
PubMed Link:
32941234
Variant Present in the following documents:
Main text
cm9-133-2633.pdf
View BVdb publication page