Publications:

ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.

Genome Research

Sangermano, Riccardo R; Khan, Mubeen M; Cornelis, Stéphanie S SS; Richelle, Valerie V; Albert, Silvia S; Garanto, Alejandro A; Elmelik, Duaa D; Qamar, Raheel R; Lugtenberg, Dorien D; van den Born, L Ingeborgh LI; Collin, Rob W J RWJ; Cremers, Frans P M FPM

Publication Date: 2018-01

Variant appearance in text: ABCA4: 5196+3_5196+8del

PubMed Link: 29162642

Variant Present in the following documents:

• Main text
• supp_gr.226621.117_Supplemental_Fig_S3.pdf
• 100.pdf
• supp_gr.226621.117_Supplemental_Table_S4_.pdf
• supp_gr.226621.117_Supplemental_Fig_S2_.pdf
• supp_gr.226621.117_Supplemental_Table_S2.pdf

View BVdb publication page