Associated Papers
Complexities in Variant Analysis, Classification, and Interpretation in Kidney Disease-Related Genes.
Westemeyer M et al.
Seminars in Nephrology, 2025
Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing.
Borràs DM et al.
Human Mutation, 2017
28378423 (PubMed )
Supplement: HUMU-38-870-s001.pdf
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-s2.xlsx › Sheet1
Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing.
Tan AY et al.
The Journal of Molecular Diagnostics : Jmd, 2014
Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.
Tan YC et al.
Human Mutation, 2009
Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients.
Inoue S et al.
Human Mutation, 2002
Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease.
Garcia-Gonzalez MA et al.
Molecular Genetics and Metabolism, 0
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