EPN3 c.751G>A ;(p.E251K)

Variant ID: 17-48616314-G-A

NM_017957.2(EPN3):c.751G>A;(p.E251K)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.

American Journal Of Human Genetics
Arno, Gavin G; Agrawal, Smriti A SA; Eblimit, Aiden A; Bellingham, James J; Xu, Mingchu M; Wang, Feng F; Chakarova, Christina C; Parfitt, David A DA; Lane, Amelia A; Burgoyne, Thomas T; Hull, Sarah S; Carss, Keren J KJ; Fiorentino, Alessia A; Hayes, Matthew J MJ; Munro, Peter M PM; Nicols, Ralph R; Pontikos, Nikolas N; Holder, Graham E GE; , ; Asomugha, Chinwe C; Raymond, F Lucy FL; Moore, Anthony T AT; Plagnol, Vincent V; Michaelides, Michel M; Hardcastle, Alison J AJ; Li, Yumei Y; Cukras, Catherine C; Webster, Andrew R AR; Cheetham, Michael E ME; Chen, Rui R
Publication Date: 2016-12-01

Variant appearance in text: EPN3: 751G>A
PubMed Link: 27889058
Variant Present in the following documents:
  • mmc2.pdf
View BVdb publication page