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
The diverse effects of pathogenic point mutations on ion channel activity of a gain-of-function polycystin-2.
Wang Y et al.
The Journal of Biological Chemistry, 2023
Prenatal diagnosis of fetuses with ultrasound anomalies by whole-exome sequencing in Luoyang city, China.
Wang Y et al.
Frontiers in Genetics, 2023
Structure of the polycystic kidney disease TRP channel Polycystin-2 (PC2).
Grieben M et al.
Nature Structural & Molecular Biology, 2017
Select a paper to view details