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Article

Genotypic and Phenotypic Insights on 11 Novel Variants in the ABCA4 Gene.

Genes - 23 Jun 2026

Al-Khuzaei Saoud, Yu Jing, Broadgate Suzanne, Shanks Morag, Clouston Penny, MacLaren Robert E, Charbel Issa Peter, Halford Stephanie, De Silva Samantha R, Downes Susan M

Abstract excerpt

Objectives: The aim of this study was to report novel ABCA4 variants detected in a cohort of 259 patients with ABCA4 retinopathy with the intention of improving the diagnostic accuracy for ABCA4 retinopathy and expanding its genetic spectrum. Methods: We retrospectively reviewed 259 patients with ABCA4 retinopathy, comprising 190 patients from the Oxford Cohort and 69 patients from other centres with a clinical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42510768
DOI: 10.3390/genes17070728
PMCID: PMC13409708

Genes

ABCA4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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