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GJB1 c.431T>G ;(p.L144W)
Variant ID: X-70443988-T-G
NM_000166.5(
GJB1
):c.431T>G;(p.L144W)
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:
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: L144W
PubMed Link:
33359733
Variant Present in the following documents:
Main text
View BVdb publication page