Varaico: Literature-Extracted Genetic Variants

Gene:CTNNA1
Variant:p.L318S
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CTNNA1

NM_001903.5:p.L318S

Associated Papers

Variant-specific functional effects of CTNNA1 in a humanized Drosophila model.

Lobo S et al.

European Journal of Human Genetics : Ejhg, 2026

CTNNA1-associated retinal dystrophy: novel multimodal imaging and electrophysiology features.

Alexis JA et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2025

Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern Dystrophy.

Tanner A et al.

Ophthalmology, 2021

Catenin α 1 mutations cause familial exudative vitreoretinopathy by overactivating Norrin/β-catenin signaling.

Zhu X et al.

The Journal of Clinical Investigation, 2021

Identification of Possible Risk Variants of Familial Strabismus Using Exome Sequencing Analysis.

An JY et al.

Genes, 2021

Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity.

Saksens NT et al.

Nature Genetics, 2016

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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."