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Article

Typical and atypical ADPKD: predicted pathogenic genetic variants and population frequencies.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 30 Jan 2026

Varughese Santosh, Huang Mary, Savige Judy

Abstract excerpt

BACKGROUND AND HYPOTHESIS: The population frequency of AD polycystic kidney disease (ADPKD) has not been known with certainty. We hypothesized that more accurate population frequencies for typical (PKD1, PKD2) and atypical (GANAB, ALG9, DNAJB11 ALG5, IFT140, NEK8) ADPKD were possible using a computational approach. METHODS: Initially, this study calculated the number of predicted pathogenic structural, null, and...

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Share to Gene Frequency
Share to PKD1 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genetic Variation

Share to Polycystic Kidney, Autosomal Dominant

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Source

Open in PubMed Open full text

Identifiers

PMID: 40810452
DOI: 10.1093/ndt/gfaf158
PMCID: PMC12957935

Genes

NEK8
PKD1
PKD2
ALG5
ALG9
DNAJB11
GANAB
IFT140

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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