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GJB1 c.533A>G ;(p.D178G)
Variant ID: X-70444090-A-G
NM_000166.5(
GJB1
):c.533A>G;(p.D178G)
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: D178G
PubMed Link:
33359733
Variant Present in the following documents:
Main text
View BVdb publication page
Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease.
Chinese Medical Journal
Lu, Yuan-Yuan YY; Lyu, He H; Jin, Su-Qin SQ; Zuo, Yue-Huan YH; Liu, Jing J; Wang, Zhao-Xia ZX; Zhang, Wei W; Yuan, Yun Y
Publication Date: 2017-05-05
Variant appearance in text: GJB1: 533A>G; D178G
PubMed Link:
28469099
Variant Present in the following documents:
CMJ-130-1049.pdf
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: D178G
PubMed Link:
27098783
Variant Present in the following documents:
CMJ-129-1011.pdf
View BVdb publication page