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Article

Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease.

JAMA - 27 Dec 2022

Chang Alexander R, Moore Bryn S, Luo Jonathan Z, Sartori Gino, Fang Brian, Jacobs Steven, Abdalla Yoosif, Taher Mohammed, Carey David J, Triffo William J, Singh Gurmukteshwar, Mirshahi Tooraj

Abstract excerpt

Importance: Most studies of autosomal dominant polycystic kidney disease (ADPKD) genetics have used kidney specialty cohorts, focusing on PKD1 and PKD2. These can lead to biased estimates of population prevalence of ADPKD-associated gene variants and their phenotypic expression. Objective: To determine the prevalence of ADPKD and contributions of PKD1, PKD2, and other genes related to cystic kidney disease in a...

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Identifiers

PMID: 36573973
DOI: 10.1001/jama.2022.22847
PMCID: PMC9856880

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