A novel splicing variant of VCAN identified in a Chinese family initially diagnosed with familial exudative vitreoretinopathy

Abstract Background Wagner vitreoretinopathy (WVR) is a rare autosomal dominant vitreoretinopathy caused by pathogenic variants in the VCAN gene. The aim of this study was to report a novel splicing variant in VCAN identified in a three‐generation Chinese family initially diagnosed with familial exu...

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Bibliographic Details
Main Authors: Junwei Zhong, Jie Shi, Xiaotian Zhang, Ke Xu, Xiaohui Zhang, Yue Xie, Yang Li
Format: Article
Language:English
Published: Wiley 2023-02-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Online Access:https://doi.org/10.1002/mgg3.2083