USH2A c.14565del ;(p.N4856Mfs*28)

Variant ID: 1-215821886-TG-T

NM_206933.2(USH2A):c.14565del;(p.N4856Mfs*28)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies.

Scientific Reports
Ezquerra-Inchausti, Maitane M; Anasagasti, Ander A; Barandika, Olatz O; Garay-Aramburu, Gonzaga G; Galdós, Marta M; López de Munain, Adolfo A; Irigoyen, Cristina C; Ruiz-Ederra, Javier J
Publication Date: 2018-10-18

Variant appearance in text: USH2A: 14565del
PubMed Link: 30337596
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_33810.pdf
View BVdb publication page