Varaico: Literature-Extracted Genetic Variants

Gene:CTNNA1
Variant:p.S322L
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CTNNA1

NM_001903.5:p.S322L

Associated Papers

Pattern Macular Dystrophy Caused by CTNNA1 Gene Mutation.

Upadhyaya A et al.

Ophthalmology. Retina, 2024

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

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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."