ABCA4 c.4539+2065C>G

Variant ID: 1-94492936-G-C

NM_000350.2(ABCA4):c.4539+2065C>G

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.

Human Mutation
Hitti-Malin, Rebekkah J RJ; Dhaenens, Claire-Marie CM; Panneman, Daan M DM; Corradi, Zelia Z; Khan, Mubeen M; den Hollander, Anneke I AI; Farrar, G Jane GJ; Gilissen, Christian C; Hoischen, Alexander A; van de Vorst, Maartje M; Bults, Femke F; Boonen, Erica G M EGM; Saunders, Patrick P; , ; Roosing, Susanne S; Cremers, Frans P M FPM
Publication Date: 2022-10-19

Variant appearance in text: ABCA4: 4539+2065C>G
PubMed Link: 36259723
Variant Present in the following documents:
  • HUMU-43-2234-s012.xlsx, sheet 1
  • HUMU-43-2234-s007.xlsx, sheet 1
View BVdb publication page



Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.

Frontiers In Genetics
Keegan, Niall P NP; Wilton, Steve D SD; Fletcher, Sue S
Publication Date: 2022

Variant appearance in text: ABCA4: 4539+2065C>G
PubMed Link: 35754842
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 1
View BVdb publication page



Antisense Oligonucleotide-Based Rescue of Aberrant Splicing Defects Caused by 15 Pathogenic Variants in ABCA4.

International Journal Of Molecular Sciences
Tomkiewicz, Tomasz Z TZ; Suárez-Herrera, Nuria N; Cremers, Frans P M FPM; Collin, Rob W J RWJ; Garanto, Alejandro A
Publication Date: 2021-04-28

Variant appearance in text: ABCA4: 4539+2065C>G
PubMed Link: 33924840
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cross-Sectional and Longitudinal Assessment of the Ellipsoid Zone in Childhood-Onset Stargardt Disease.

Translational Vision Science & Technology
Tanna, Preena P; Georgiou, Michalis M; Strauss, Rupert W RW; Ali, Naser N; Kumaran, Neruban N; Kalitzeos, Angelos A; Fujinami, Kaoru K; Michaelides, Michel M
Publication Date: 2019-03

Variant appearance in text: STGD1: 4539+2065C>G
PubMed Link: 30834176
Variant Present in the following documents:
  • Main text
View BVdb publication page