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.




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