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Article

Novel Splicing Variants in the ARR3 Gene Cause the Female-Limited Early-Onset High Myopia.

Investigative ophthalmology & visual science - 5 Mar 2024

Niu Jianing, Zhu Weili, Jin Xiaoying, Teng Xiaoming, Zhang Junyu

Abstract excerpt

Purpose: Variants in the ARR3 gene have been linked to early-onset high myopia (eoHM) with a unique X-linked female-limited inheritance. However, the clinical validity of this gene-disease association has not been systematically evaluated. Methods: We identified two Chinese families with novel ARR3 splicing variants associated with eoHM. Minigene constructs were generated to assess the effects of the variants on...

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Arrestins
East Asian People
Mutation
Myopia
RNA Splicing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 38517428
DOI: 10.1167/iovs.65.3.32
PMCID: PMC10981162

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ARR3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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