Utilizing Long-Read Sequencing for Haplotype Construction and Prevention of Autosomal Dominant Polycystic Kidney Disease Transmission in Mosaicism Family
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This study presents a case of autosomal dominant polycystic kidney disease (ADPKD) involving a mosaic microdeletion in the PKD1 gene and explores the application of long-read sequencing technologies for haplotype construction and preimplantation genetic testin... ...
