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GJB1 c.459T>G ;(p.F153L)
Variant ID: X-70444016-T-G
NM_000166.5(
GJB1
):c.459T>G;(p.F153L)
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: F153L
PubMed Link:
33359733
Variant Present in the following documents:
Main text
View BVdb publication page
Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan.
Annals Of Clinical And Translational Neurology
Hsu, Yun-Hsin YH; Lin, Kon-Ping KP; Guo, Yuh-Cherng YC; Tsai, Yu-Shuen YS; Liao, Yi-Chu YC; Lee, Yi-Chung YC
Publication Date: 2019-06
Variant appearance in text: GJB1: F153L
PubMed Link:
31211173
Variant Present in the following documents:
Main text
ACN3-6-1090.pdf
View BVdb publication page