Associated Papers
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
Lessons From the Clinic: ADPKD Genetic Test Unraveling Severe Phenotype, Intrafamilial Variability, and New, Rare Causing Genotype.
Izzi C et al.
Kidney International Reports, 2022
Structure of the polycystic kidney disease TRP channel Polycystin-2 (PC2).
Grieben M et al.
Nature Structural & Molecular Biology, 2017
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-s5.xls › Sheet1
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