An Intermediate-Effect Size Variant in UMOD Confers Risk for Chronic Kidney Disease
Eric Olinger,Celine Schaeffer,Kendrah Kidd,Elhussein A. E. Elhassan,Yurong Cheng,Ines Dufour,Guglielmo Schiano,Holly Mabillard,Elena Pasqualetto,Patrick Hofmann,Daniel G. Fuster,Andreas D. Kistler,Ian J. Wilson,Stanislav Kmoch,Laure Raymond,Thomas Robert,Kai-Uwe Eckardt,Anthony J. Bleyer,Anna Koettgen,Peter J. Conlon,Michael Wiesener,John A. Sayer,Luca Rampoldi,Olivier Devuyst PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA（2022）
关键词
genetic architecture,uromodulin,Autosomal Dominant Tubulointerstitial Kidney Disease,rare disease,ER stress
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