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Article

ABCA4 variant screening in a Turkish cohort with Stargardt disease.

Ophthalmic genetics - 1 Apr 2024

Sinim Kahraman Neslihan, Özgüç Çalışkan Büşra, Kandemir Nefise, Öner Ayşe, Dündar Munis, Özkul Yusuf

Abstract excerpt

PURPOSE: This study aims to evaluate the ABCA4 variants in patients diagnosed with Stargardt disease. METHODS: This is a retrospective study designed to investigate variants in the ABCA4 in Stargardt disease and the clinical findings of the cases. Sex, age, age of onset of symptoms, best-corrected visual acuity, color fundus photography, optical coherence tomography, and visual field test of the patients were...

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Source

Identifiers

PMID: 38369462
DOI: 10.1080/13816810.2024.2313490

Genes

ABCA4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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