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Whole Exome Sequencing Revealed Three Novel Variants in TSPAN12 and LRP5 Genes for Two Families with Familial Exudative Vitreoretinopathy

2021-08-11

Abstract excerpt

<h4>Background: </h4> Familial exudative vitreoretinopathy (FEVR) is a complex form of blindness-causing retinal degeneration. This study investigated the potential disease-causing variant and molecular basis in two Chinese families with FEVR. <h4>Methods: </h4>: All family members underwent detailed ophthalmological examinations, including best-corrected visual acuity, fundus examination, and fluorescein fundus a...

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Literature Corpus work: 416e8fd1-ad3e-5406-9f8d-926ff4a9c7ef
DOI: 10.21203/rs.3.rs-731224/v1

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