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GJB1 c.563C>T ;(p.T188I)
Variant ID: X-70444120-C-T
NM_000166.5(
GJB1
):c.563C>T;(p.T188I)
This variant was identified in 3 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: T188I
PubMed Link:
33359733
Variant Present in the following documents:
Main text
View BVdb publication page
Systematic review of CMTX1 patients with episodic neurological dysfunction.
Annals Of Clinical And Translational Neurology
Tian, Dandan D; Zhao, Yating Y; Zhu, Ruixia R; Li, Qu Q; Liu, Xu X
Publication Date: 2021-01
Variant appearance in text: CMTX1: Thr188Ile
PubMed Link:
33314704
Variant Present in the following documents:
Main text
ACN3-8-213.pdf
View BVdb publication page
Recurrent episodes of reversible posterior leukoencephalopathy in three Chinese families with GJB1 mutations in X-linked Charcot-Marie-tooth type 1 disease: cases report.
Bmc Neurology
Liang, Youlong Y; Liu, Jingli J; Cheng, Daobin D; Wu, Yu Y; Mo, Liuhong L; Huang, Wen W
Publication Date: 2019-12-16
Variant appearance in text: GJB1: 563C>T
PubMed Link:
31842800
Variant Present in the following documents:
Main text
12883_2019_Article_1563.pdf
View BVdb publication page