USH2A c.9388T>G ;(p.W3130G)

Variant ID: 1-215990521-A-C

NM_206933.2(USH2A):c.9388T>G;(p.W3130G)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases.

International Journal Of Molecular Sciences
Reurink, Janine J; Dockery, Adrian A; Oziębło, Dominika D; Farrar, G Jane GJ; Ołdak, Monika M; Ten Brink, Jacoline B JB; Bergen, Arthur A AA; Rinne, Tuula T; Yntema, Helger G HG; Pennings, Ronald J E RJE; van den Born, L Ingeborgh LI; Aben, Marco M; Oostrik, Jaap J; Venselaar, Hanka H; Plomp, Astrid S AS; Khan, M Imran MI; van Wijk, Erwin E; Cremers, Frans P M FPM; Roosing, Susanne S; Kremer, Hannie H
Publication Date: 2021-06-15

Variant appearance in text: USH2: 9388T>G
PubMed Link: 34203967
Variant Present in the following documents:
  • Main text
  • ijms-22-06419.pdf
View BVdb publication page