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Abnormal mRNA Splicing Effect of COL4A3 to COL4A5 Unclassified Variants

10 Apr 2023

Abstract excerpt

Introduction Genetic diagnosis of Alport syndrome (AS), which results from pathogenic variants in COL4A3 , COL4A4 , or COL4A5 genes, is hindered by large numbers of unclassified variants detected using next-generation sequencing (NGS). We examined the impact on splicing of variants of uncertain significance in COL4A3 to COL4A5 . Methods Nine unrelated patients with clinical diagnosis or suspicion of AS were...

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PMID: 37441478
DOI: 10.1016/j.ekir.2023.04.001

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