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Article

Genotypic profile and phenotype correlations of ABCA4-associated retinopathy in Koreans.

Molecular vision - 1 Jan 2019

Joo Kwangsic, Seong Moon-Woo, Park Kyu Hyung, Park Sung Sup, Woo Se Joon

Abstract excerpt

Purpose: This study was conducted to analyze the clinical features associated with the pathogenic variants of ABCA4 in Korean patients with inherited retinal dystrophies (IRDs). Methods: We enrolled patients with IRDs who visited a tertiary referral hospital and identified the pathogenic variants of ABCA4 through targeted gene panel sequencing and whole exome sequencing. We analyzed the clinical characteristics...

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Identifiers

PMID: 31814693
PMCID: PMC6857773

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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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