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GJB1 c.227T>G ;(p.L76R)
Variant ID: X-70443784-T-G
NM_000166.5(
GJB1
):c.227T>G;(p.L76R)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: Leu76Arg
PubMed Link:
33314704
Variant Present in the following documents:
Main text
ACN3-8-213.pdf
View BVdb publication page