ABCA4 c.5460+1316_5460+1318del

Variant ID: 1-94478780-CCCG-C

NM_000350.2(ABCA4):c.5460+1316_5460+1318del

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.

Npj Genomic Medicine
Fadaie, Zeinab Z; Whelan, Laura L; Ben-Yosef, Tamar T; Dockery, Adrian A; Corradi, Zelia Z; Gilissen, Christian C; Haer-Wigman, Lonneke L; Corominas, Jordi J; Astuti, Galuh D N GDN; de Rooij, Laura L; van den Born, L Ingeborgh LI; Klaver, Caroline C W CCW; Hoyng, Carel B CB; Wynne, Niamh N; Duignan, Emma S ES; Kenna, Paul F PF; Cremers, Frans P M FPM; Farrar, G Jane GJ; Roosing, Susanne S
Publication Date: 2021-11-18

Variant appearance in text: ABCA4: 5460+1315_5460+1317del
PubMed Link: 34795310
Variant Present in the following documents:
  • Main text
  • 41525_2021_Article_261.pdf
  • 41525_2021_261_MOESM2_ESM.pdf
View BVdb publication page