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PKD1 Splice and PKD2 Nonsense Variants Identified in Two Chinese Families With Autosomal Dominant Polycystic Kidney Disease.
Li Z et al.
Nephrology (carlton, Vic.), 2025
Clinical Relevance of IFT140 Loss-of-Function Variants in Development of Renal Cysts.
Cristalli CP et al.
Genes, 2025
40428294 (PubMed )
Supplement: genes-16-00472-s001.zip › TableS2.xlsx › TableS2
Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing.
Trujillano D et al.
Molecular Genetics & Genomic Medicine, 2014
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