Associated Papers
Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype-Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease.
Ercoskun P et al.
Clinical Genetics, 2025
Genetic Analysis of Severe Polycystic Liver Disease in Japan.
Mizuno H et al.
Kidney360, 2024
PKD1 Mutation Is a Biomarker for Autosomal Dominant Polycystic Kidney Disease.
Kimura T et al.
Biomolecules, 2023
37509056 (PubMed )
Supplement: biomolecules-13-01020-s001.zip › biomolecules-2403734-supplementary_correct.xlsx › Table_S1
A no-nonsense approach to hereditary kidney disease.
Tokhmafshan F et al.
Pediatric Nephrology (berlin, Germany), 2020
Population data improves variant interpretation in autosomal dominant polycystic kidney disease.
Mallawaarachchi AC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Novel Mutations in the PKD1 and PKD2 Genes of Chinese Patients with Autosomal Dominant Polycystic Kidney Disease.
Xu D et al.
Kidney & Blood Pressure Research, 2018
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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