Varaico: Literature-Extracted Genetic Variants

Gene:TSPAN12
Variant:p.C181W
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TSPAN12

NM_012338.4:p.C181W

Associated Papers

Early Onset High Myopia and Severe Anisometropia Associated With Familial Exudative Vitreoretinopathy of Irregular Dominant Inheritance in 11 Chinese Families: Analysis of Refraction Features and Pathogenic Variations.

Cheng WY et al.

Genetics Research, 2025

A novel stop codon mutation of TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy.

Zou G et al.

Ophthalmic Genetics, 2022

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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."