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Comprehensive Analysis of PKD1 and PKD2 by Long-Read Sequencing in Autosomal Dominant Polycystic Kidney Disease.

Dechao XuAiping MaoLibao ChenLe WuYiyi MaChanglin Mei
Published in: Clinical chemistry (2024)
CAPKD represents a comprehensive and specific assay toward full characterization of PKD1 and PKD2 variants, and improves the genetic diagnosis for ADPKD.
Keyphrases
  • polycystic kidney disease
  • copy number
  • high throughput
  • single cell
  • single molecule
  • genome wide
  • gene expression