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USH2A c.9424_9425delinsCT ;(p.G3142L)
Variant ID: 1-215990484-CC-AG
NM_206933.2(
USH2A
):c.9424_9425delinsCT;(p.G3142L)
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:
Ataluren for the Treatment of Usher Syndrome 2A Caused by Nonsense Mutations.
International Journal Of Molecular Sciences
Samanta, Ananya A; Stingl, Katarina K; Kohl, Susanne S; Ries, Jessica J; Linnert, Joshua J; Nagel-Wolfrum, Kerstin K
Publication Date: 2019-12-12
Variant appearance in text: USH2A: Gly3142Leu
PubMed Link:
31842393
Variant Present in the following documents:
Main text
ijms-20-06274.pdf
View BVdb publication page