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Article

Beyond the phenotype: Exploring inherited retinal diseases with targeted next-generation sequencing in a Turkish cohort.

Clinical genetics - 1 Sept 2024

Ozguc Caliskan Busra, Uslu Kubra, Sinim Kahraman Neslihan, Erkilic Kuddusi, Oner Ayse, Dundar Munis

Abstract excerpt

This research aims to compile recent clinical and genetic data from Turkish patients with inherited retinal disorders and evaluate the effectiveness of targeted Next-generation sequencing panels. The study included Turkish individuals with hereditary retinal diseases who visited the Medical Genetic Department of Erciyes University between 2019 and 2022. One proband per family was selected based on eligibility. We...

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Identifiers

PMID: 38576124
DOI: 10.1111/cge.14529

Genes

ABCA4
EYS
RDH12
USH2A

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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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