Varaico: Literature-Extracted Genetic Variants

Gene:ARR3
Variant:p.A298D
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ARR3

NM_004312.3:p.A298D

Associated Papers

Identification of a novel nonsense variant in ARR3 in a family with early-onset high myopia.

Yu J et al.

Genes & Genomics, 2026

The association of ARR3 genetic polymorphisms with pathologic myopia in Northern Chinese population.

Gao W et al.

Experimental Eye Research, 2025

Advances in the study of ARR3 in myopia.

Guo YM et al.

Frontiers in Cell and Developmental Biology, 2025

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

Niu J et al.

Investigative Ophthalmology & Visual Science, 2024

38517428 (PubMed )
Supplement: iovs-65-3-32_s001.pdf

Pathogenic variant in the X-linked ARR3 gene associated with variable early-onset myopia.

Ediae GU et al.

American Journal of Medical Genetics. Part A, 2024

Genetic and clinical landscape of ARR3-associated MYP26: the most common cause of Mendelian early-onset high myopia with a unique inheritance.

Wang Y et al.

The British Journal of Ophthalmology, 2023

36180177 (PubMed )
Supplement: bjo-2022-321511supp008.pdf

The causal mutation in ARR3 gene for high myopia and progressive color vision defect.

Gu L et al.

Scientific Reports, 2023

Mutational investigation of 17 causative genes in a cohort of 113 families with nonsyndromic early-onset high myopia in northwestern China.

Ye M et al.

Molecular Genetics and Genomics : Mgg, 2023

Identification of a Novel Frameshift Variant of ARR3 Related to X-Linked Female-Limited Early-Onset High Myopia and Study on the Effect of X Chromosome Inactivation on the Myopia Severity.

Xiao X et al.

Journal of Clinical Medicine, 2023

Early onset X-linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene.

van Mazijk R et al.

Human Mutation, 2022

Myopia-26, the female-limited form of early-onset high myopia, occurring in a European family.

Széll N et al.

Orphanet Journal of Rare Diseases, 2021

Identification and Functional Characterization of a Novel Nonsense Variant in ARR3 in a Southern Chinese Family With High Myopia.

Yuan D et al.

Frontiers in Genetics, 2021

Mutation screening of 17 candidate genes in a cohort of 67 probands with early-onset high myopia.

Liu F et al.

Ophthalmic & Physiological Optics : the Journal of the British College of Ophthalmic Opticians (optometrists), 2020

An overview of myopia genetics.

Cai XB et al.

Experimental Eye Research, 2019

X-linked heterozygous mutations in ARR3 cause female-limited early onset high myopia.

Xiao X et al.

Molecular Vision, 2016

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