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Exome-First Strategy in Adult Patients With CKD: A Cohort Study

16 Dec 2022

Abstract excerpt

Introduction: Exome sequencing (ES) has widened the field of nephrogenomics in adult nephrology. In addition to reporting the diagnostic yield of ES in an adult cohort study, we investigated the clinical implications of molecular diagnosis and developed a clinical score to predict the probability of obtaining positive result. Methods: From September 2018 we have used ES to prospectively perform a first-tier...

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PMID: 36938085
DOI: 10.1016/j.ekir.2022.12.007

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