Article

The population frequency of predicted pathogenic variants in the genes associated with Autosomal Dominant Polycystic Liver Disease (ADPLD) and kidney cysts

2026-04-16

Abstract excerpt

Autosomal dominant polycystic liver disease (ADPLD) commonly results from a pathogenic variant in one of 6 genes (GANAB, ALG8, LRP5, PRKCSH, SEC61B, SEC63). Pathogenic variants in these genes are also associated with kidney cysts, which rarely cause kidney failure, but the genes are included in cystic kidney panels. This study determined the population frequency of predicted pathogenic variants in the ADPLD genes...

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Literature Corpus work: 0c14db80-0936-5aa4-9fed-7d408f2a3833
DOI: 10.64898/2026.04.13.26350832

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