Associated Papers
Next-Generation Sequencing Defines a Molecularly Confirmed ARPKD Core Within the Broader PKHD1-Associated Disease Spectrum.
Lapunzina-Soler P et al.
Genes, 2026
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
39411402 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_S12
Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.
Mansilla MA et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2021
Mutational screening of PKD2 gene in the north Indian polycystic kidney disease patients revealed 28 genetic variations.
Raj S et al.
Journal of Genetics, 2017
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
27535533 (PubMed )
Supplement: NIHMS798561-supplement-supp_table20.xlsx › SI_Table_20
[Genetic analysis (PKD2) of autosomal dominant polycystic kidney disease].
Gómez PF et al.
Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 2009
Four novel mutations of the PKD2 gene in Czech families with autosomal dominant polycystic kidney disease.
Reiterová J et al.
Human Mutation, 2002
Mutations of the human polycystic kidney disease 2 (PKD2) gene.
Deltas CC
Human Mutation, 2001
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