Varaico: Literature-Extracted Genetic Variants

Gene:TSPAN12
Variant:p.Y211*
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TSPAN12

NM_012338.4:p.Y211*

Associated Papers

Genetic detection of two novel LRP5 pathogenic variants in patients with familial exudative vitreoretinopathy.

Li J et al.

Bmc Ophthalmology, 2023

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

Zou G et al.

Ophthalmic Genetics, 2022

Pathogenic variants and associated phenotypic spectrum of TSPAN12 based on data from a large cohort.

Sun W et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 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."