Investigative ophthalmology & visual science۲۰۲۵۱ استنادنمایه شده در PubMed
Yingwei Wang, Shuhan Zhang, Yuxi Zheng, Dongwei Guo, Yi Jiang, Jiamin Ouyang, Wenmin Sun, Shiqiang Li, Xueshan Xiao, LingYi Liang, Zhen Yi, Qingjiong Zhang
چکیده
UBAP1L is a newly discovered gene related to recessive inherited retinal degeneration (IRD) with an unknown pathogenic mechanism. This study aims to investigate whether biallelic pathogenic variants in UBAP1L contribute to the unsolved cases in Chinese IRD families and to explore the impact of the…
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DOI: 10.1167/iovs.66.15.35