Associated Papers
Results of Multigene Panel Testing, Including PKD1, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis.
Tapper EE et al.
Kidney Medicine, 2026
41509997 (PubMed )
Supplement: mmc1.xlsx › Table_S3-_Positive_SNV___indel
Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.
Mantovani V et al.
Frontiers in Genetics, 2020
32457805 (PubMed )
Supplement: Data_Sheet_1.PDF
Progressive development of polycystic kidney disease in the mouse model expressing Pkd1 extracellular domain.
Kurbegovic A et al.
Human Molecular Genetics, 2013
Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples.
Phakdeekitcharoen B et al.
Journal of the American Society of Nephrology : Jasn, 2001
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