Associated Papers
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 2024
39291214 (PubMed )
Supplement: mmc1.xlsx › S2a._Diagnostic_cohort
Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience.
Vaisitti T et al.
Journal of Nephrology, 2021
Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction.
He WB et al.
Bmc Medical Genetics, 2018
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