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A Comprehensive Splicing Characterization of COL4A5 Mutations and Prognostic Significance in a Single Cohort with X-linked Alport Syndrome

Haomiao Li, Shengnan Zhang,Wei Zhou,Chunli Wang,Chunhua Zhu,Sanlong Zhao,Fei Zhao,Zhanjun Jia,Aihua Zhang,Bixia Zheng,Guixia Ding

Frontiers in Genetics（2025）

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关键词
alport syndrome,COL4A5,minigene assay,splicing,mRNA
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