Varaico: Literature-Extracted Genetic Variants

Gene:TSPAN12
Variant:p.E118*
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TSPAN12

NM_012338.4:p.E118*

Associated Papers

Mutations in TSPAN12 gene causing familial exudative vitreoretinopathy.

Ju Y et al.

Human Genomics, 2024

Five novel dysfunctional variants in the TSPAN12 gene in familial exudative vitreoretinopathy.

Wang Y et al.

Experimental Eye Research, 2023

Clinical characteristics and mutation spectrum in 33 Chinese families with familial exudative vitreoretinopathy.

Mao J et al.

Annals of Medicine, 2022

Mutation spectrum in a cohort with familial exudative vitreoretinopathy.

Qu N et al.

Molecular Genetics & Genomic Medicine, 2022

Ocular Features and Mutation Spectrum of Patients With Familial Exudative Vitreoretinopathy.

Tao T et al.

Investigative Ophthalmology & Visual Science, 2021

Analysis of Etiologic Factors in Pediatric Rhegmatogenous Retinal Detachment With Genetic Testing.

Chen C et al.

American Journal of Ophthalmology, 2020

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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."