Varaico: Literature-Extracted Genetic Variants

Gene:TSPAN12
Variant:p.C105*
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TSPAN12

NM_012338.4:p.C105*

Associated Papers

A novel TSPAN12 mutation causing retinitis pigmentosa-like appearance of familial exudative vitreoretinopathy.

Abraham JR et al.

Ophthalmic Genetics, 2026

A novel variant in the TSPAN12 gene-presenting as unilateral myopia, pediatric cataract, and heterochromia in a patient with familial exudative vitreoretinopathy.

Elhusseiny AM et al.

European Journal of Ophthalmology, 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."