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GJB1 c.94_95delinsGA ;(p.R32E)
Variant ID: X-70443651-AG-GA
NM_000166.5(
GJB1
):c.94_95delinsGA;(p.R32E)
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:
What's the Function of Connexin 32 in the Peripheral Nervous System?
Frontiers In Molecular Neuroscience
Bortolozzi, Mario M
Publication Date: 2018
Variant appearance in text: GJB1: R32E
PubMed Link:
30042657
Variant Present in the following documents:
Main text
fnmol-11-00227.pdf
View BVdb publication page
A fully atomistic model of the Cx32 connexon.
Plos One
Pantano, Sergio S; Zonta, Francesco F; Mammano, Fabio F
Publication Date: 2008-07-02
Variant appearance in text: CMTX: R32E
PubMed Link:
18648547
Variant Present in the following documents:
Main text
pone.0002614.pdf
View BVdb publication page