Associated Papers
Three intronic variants altering RNA splicing were identified in the CLCN5 gene by minigene assay.
Qiao D et al.
Bmc Medical Genomics, 2025
Characterization of pre-mRNA Splicing Defects Caused by CLCN5 and OCRL Mutations and Identification of Novel Variants Associated with Dent Disease.
Mura-Escorche G et al.
Biomedicines, 2023
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