Article

Genetic detection of two novel LRP5 mutations in patients with familial exudative vitreoretinopathy

2023-01-20

Abstract excerpt

<h4>Objective: </h4> To identify causative genetic mutations by targeted exome sequencing in 9 independent pedigrees with familial exudative vitreoretinopathy (FEVR) and characterize the novel pathogenic mutations by molecular dynamics simulation. Methods Clinical data were collected from 9 families with FEVR. The causative genes were screened by targeted next-generation sequencing (TGS) and verified by the Sange...

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Literature Corpus work: 4c82ef4f-ec89-54c5-87b3-10b7dae228b5
DOI: 10.21203/rs.3.rs-2431551/v1

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