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GJB1 c.176G>C ;(p.G59A)
Variant ID: X-70443733-G-C
NM_000166.5(
GJB1
):c.176G>C;(p.G59A)
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:
Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.
Brain Research
Hoang Dinh, Emilie E; Ahmad, Shoeb S; Chang, Qing Q; Tang, Wenxue W; Stong, Benjamin B; Lin, Xi X
Publication Date: 2009-06-24
Variant appearance in text: GJB1: G59A
PubMed Link:
19230829
Variant Present in the following documents:
Main text
View BVdb publication page