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Somatic mutation in autosomal dominant polycystic kidney disease revealed by deep sequencing human kidney cysts

19 Dec 2024

Abstract excerpt

Autosomal Dominant Polycystic Kidney Disease (ADPKD) results in progressive cysts that lead to kidney failure, and is caused by heterozygous germline variants in PKD1 or PKD2. Cyst pathogenesis is not definitively understood. Somatic second-hit mutations have been implicated in cyst pathogenesis, though technical sequencing challenges have limited investigation. We used unique molecular identifiers, high-depth...

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PMID: 39702469
DOI: 10.1038/s41525-024-00452-6

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