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GJB1 c.44G>T ;(p.R15L)
Variant ID: X-70443601-G-T
NM_000166.5(
GJB1
):c.44G>T;(p.R15L)
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: R15L
PubMed Link:
33359733
Variant Present in the following documents:
Main text
View BVdb publication page
Cross-Sectional Study in a Large Cohort of Chinese Patients With GJB1 Gene Mutations.
Frontiers In Neurology
Liu, Xiaoxuan X; Duan, Xiaohui X; Zhang, Yingshuang Y; Sun, Aping A; Fan, Dongsheng D
Publication Date: 2020
Variant appearance in text: CMTX1: R15L
PubMed Link:
32903794
Variant Present in the following documents:
Main text
fneur-11-00690.pdf
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: 44G>T; R15L
PubMed Link:
28469099
Variant Present in the following documents:
CMJ-130-1049.pdf
View BVdb publication page