ABCA4 c.5018+129A>C

Variant ID: 1-94486667-T-G

NM_000350.2(ABCA4):c.5018+129A>C

This variant was identified in 1 publication

View GRCh38 version.




Publications:


ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease.

Investigative Ophthalmology & Visual Science
Corradi, Zelia Z; Salameh, Manar M; Khan, Mubeen M; Héon, Elise E; Mishra, Ketan K; Hitti-Malin, Rebekkah J RJ; AlSwaiti, Yahya Y; Aslanian, Alice A; Banin, Eyal E; Brooks, Brian P BP; Zein, Wadih M WM; Hufnagel, Robert B RB; Roosing, Susanne S; Dhaenens, Claire-Marie CM; Sharon, Dror D; Cremers, Frans P M FPM; AlTalbishi, Alaa A
Publication Date: 2022-04-01

Variant appearance in text: rs933073
PubMed Link: 35475888
Variant Present in the following documents:
  • Main text
  • iovs-63-4-20.pdf
View BVdb publication page