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The Journal of Clinical Investigation|October 7, 2025
CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissectionTheresa Nauth, Melanie Philipp, Sina Renner, et al.Journal of the American Society of Nephrology : JASN|November 22, 2022
Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and FrogsVerena Klämbt, Florian Buerger, Chunyan Wang, et al.Pageof 2