Framework From a Multidisciplinary Approach for Transitioning Variants of Unknown Significance From Clinical Genetic Testing in Kidney Disease to a Definitive Classification

Kidney International Reports(2022)

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摘要
Determination of a molecular diagnosis for the example family allows for proper surveillance and management of -related manifestations such as kidney disease, diabetes, and hypomagnesemia with important implications for safe living-related kidney donation. The candidate gene-variant pair also allows for clinical biomarker testing for aberrations of linked pathways. This working model may be applicable to other diseases of genetic etiology.
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关键词
chronic kidney disease,genetics,HNF1B-MODY,pancreatitis,autosomal dominant tubulointerstitial kidney disease (ADTKD),hypomagnesemia
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