Varaico: Literature-Extracted Genetic Variants

Gene:ARR3
Variant:p.T256Splc
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ARR3

NM_004312.3:p.T256Splc

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

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

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

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

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