Article

5' UTR variant in NDP gene leads to incorrect splicing and Familial Exudative Vitreoretinopathy

2024-05-07

Abstract excerpt

<title>Abstract</title> <p> Background Familial exudative vitreoretinopathy (FEVR) is a clinically and genetically heterogeneous ophthalmic disease that is characterized by incomplete retinal vascular development. NDP gene is the main cause reason of X-linked FEVR. Methods Copy Number Variation Sequencing, chromosomal microarray, Whole exome sequencing and Sanger sequencing were performed to find and confirm t...

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Literature Corpus work: d3eed303-67af-590a-a3e3-a244f01258e7
DOI: 10.21203/rs.3.rs-4183042/v1

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