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)
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.
更多查看译文
关键词
chronic kidney disease,genetics,HNF1B-MODY,pancreatitis,autosomal dominant tubulointerstitial kidney disease (ADTKD),hypomagnesemia
AI 理解论文
溯源树
样例
![](https://originalfileserver.aminer.cn/sys/aminer/pubs/mrt_preview.jpeg)
生成溯源树,研究论文发展脉络
Chat Paper
正在生成论文摘要