Publications:

Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.

Progress In Retinal And Eye Research

Cremers, Frans P M FPM; Lee, Winston W; Collin, Rob W J RWJ; Allikmets, Rando R

Publication Date: 2020-11

Variant appearance in text: ABCA4: 1937+13T>G

PubMed Link: 32278709

Variant Present in the following documents:

• Main text
• nihms-1627942.pdf

View BVdb publication page

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: STGD1: 1937+13T>G

PubMed Link: 29162642

Variant Present in the following documents:

• Main text
• supp_gr.226621.117_Supplemental_Table_S2.pdf
• supp_gr.226621.117_Supplemental_Fig_S2_.pdf
• 100.pdf
• supp_gr.226621.117_Supplemental_Table_S4_.pdf
• supp_gr.226621.117_Supplemental_Table_S12_.pdf
• supp_gr.226621.117_Supplemental_Fig_S3.pdf

View BVdb publication page