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

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 exudative v...

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Detalles Bibliográficos
Autores principales: Zhong, Junwei, Shi, Jie, Zhang, Xiaotian, Xu, Ke, Zhang, Xiaohui, Xie, Yue, Li, Yang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9938748/
https://www.ncbi.nlm.nih.gov/pubmed/36333947
http://dx.doi.org/10.1002/mgg3.2083

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