F2 c.1164G>T ;(p.E388D)

Variant ID: 11-46749579-G-T

NM_000506.3(F2):c.1164G>T;(p.E388D)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.

American Journal Of Human Genetics
Coppieters, Frauke F; Ascari, Giulia G; Dannhausen, Katharina K; Nikopoulos, Konstantinos K; Peelman, Frank F; Karlstetter, Marcus M; Xu, Mingchu M; Brachet, Cécile C; Meunier, Isabelle I; Tsilimbaris, Miltiadis K MK; Tsika, Chrysanthi C; Blazaki, Styliani V SV; Vergult, Sarah S; Farinelli, Pietro P; Van Laethem, Thalia T; Bauwens, Miriam M; De Bruyne, Marieke M; Chen, Rui R; Langmann, Thomas T; Sui, Ruifang R; Meire, Françoise F; Rivolta, Carlo C; Hamel, Christian P CP; Leroy, Bart P BP; De Baere, Elfride E
Publication Date: 2016-08-04

Variant appearance in text: F2: 1164G>T
PubMed Link: 27486781
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page