Varaico: Literature-Extracted Genetic Variants

Gene:ARR3
Variant:p.R72*
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ARR3

NM_004312.3:p.R72*

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

A Chinese Family with X-Linked Female-Limited High Myopia Caused by an ARR3 Variant.

Zhang J et al.

Genetic Testing and Molecular Biomarkers, 2026

Advances in the study of ARR3 in myopia.

Guo YM et al.

Frontiers in Cell and Developmental Biology, 2025

Cone dysfunction in ARR3-mutation-associated early-onset high myopia: an electrophysiological study.

Fehér T et al.

Orphanet Journal of Rare Diseases, 2024

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 background of high myopia in children.

Šenk U et al.

Plos One, 2024

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

Gu L et al.

Scientific Reports, 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

Whole exome sequencing of known eye genes reveals genetic causes for high myopia.

Haarman AEG et al.

Human Molecular Genetics, 2022

35567543 (PubMed )
Supplement: supplemental_table_1_ddac113.xlsx › Sheet1

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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."