Associated Papers
Hypertension increases PPV for polycystic kidney disease in PKD1 and PKD2 variant carriers.
Telis N et al.
Hgg Advances, 2025
40269498 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F et al.
Journal of Translational Medicine, 2023
37353797 (PubMed )
Supplement: 12967_2023_4183_MOESM3_ESM.xlsx › Table_S3
Modification of PCR conditions and design of exon-specific primers for the efficient molecular diagnosis of PKD1 mutations.
Liu W et al.
Kidney & Blood Pressure Research, 2014
Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD).
Hoefele J et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2011
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