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Updated: Jan 11, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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De novo PKD1 splicing and missense variants in two familial ADPKD: Molecular characterization and genetic counseling

Juan Zhu1, Zi-Yan Xu2, Hong-Ping Yu2

  • 1Department of Traditional Chinese Medicine and Nephrology and Neurology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China; Affiliated Second People's Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China.

Gene
|November 16, 2025
PubMed

Keywords:
Autosomal Dominant Polycystic Kidney Disease (ADPKD)De novo variantMinigene assayMistranslation variantPKD1Splicing variant

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