USH2A c.13335_13347del ;(p.E4445Dfs*12)

Variant ID: 1-215847906-GAGAGTCCATGTTC-G

NM_206933.2(USH2A):c.13335_13347del;(p.E4445Dfs*12)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.

Plos One
Weisschuh, Nicole N; Mayer, Anja K AK; Strom, Tim M TM; Kohl, Susanne S; Glöckle, Nicola N; Schubach, Max M; Andreasson, Sten S; Bernd, Antje A; Birch, David G DG; Hamel, Christian P CP; Heckenlively, John R JR; Jacobson, Samuel G SG; Kamme, Christina C; Kellner, Ulrich U; Kunstmann, Erdmute E; Maffei, Pietro P; Reiff, Charlotte M CM; Rohrschneider, Klaus K; Rosenberg, Thomas T; Rudolph, Günther G; Vámos, Rita R; Varsányi, Balázs B; Weleber, Richard G RG; Wissinger, Bernd B
Publication Date: 2016

Variant appearance in text: USH2A: 13335_13347del
PubMed Link: 26766544
Variant Present in the following documents:
  • Main text
  • pone.0145951.pdf
View BVdb publication page