Associated Papers
Clinical Utility of Genetic Testing with Geographical Locations in ADPKD: Describing New Variants.
García Rabaneda C et al.
Journal of Clinical Medicine, 2024
Exome sequencing unravels genetic variants associated with chronic kidney disease in Saudi Arabian patients.
Al-Hamed MH et al.
Human Mutation, 2022
A single-center analysis of genotype-phenotype characteristics of Chinese patients with autosomal dominant polycystic kidney disease by targeted exome sequencing.
Yan Z et al.
Frontiers in Genetics, 2022
36186434 (PubMed )
Supplement: Table1.XLSX › PKD1
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.
Zacchia M et al.
Journal of Nephrology, 2021
Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).
Carrera P et al.
Scientific Reports, 2016
27499327 (PubMed )
Supplement: srep30850-s4.xlsx › Sheet1
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