ABCA4 c.2640G>T ;(p.W880C)

Variant ID: 1-94517202-C-A

NM_000350.2(ABCA4):c.2640G>T;(p.W880C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Correlation of Macular Focal Electroretinogram with Ellipsoid Zone Extension in Stargardt Disease.

Journal Of Ophthalmology
Abed, Edoardo E; Placidi, Giorgio G; Calandriello, Luigi L; Piccardi, Marco M; Campagna, Francesca F; Bertelli, Matteo M; Minnella, Angelo Maria AM; Savastano, Maria Cristina MC; Falsini, Benedetto B
Publication Date: 2017

Variant appearance in text: STGD1: Trp880Cys
PubMed Link: 28912967
Variant Present in the following documents:
  • Main text
  • JOPH2017-3643495.pdf
View BVdb publication page