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Article

Evaluation of Genetic Associations with Clinical Phenotypes of Kidney Stone Disease

24 Jul 2024

Abstract excerpt

From a large-scale electronic health record, we replicate kidney stone disease risk loci within UMOD (16p12.3). We demonstrate differences in stone composition and 24-h urine parameters consistent with uromodulin function as an inhibitor for calcium-based stone types. Previous studies have reported a strong genetic contribution to kidney stone risk. This study aims to identify genetic associations of kidney stone...

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PMID: 39156495
DOI: 10.1016/j.euros.2024.07.109

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