Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype

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Bibliographic Details
Main Authors:	Sarah R. Senum, Ying Li, Katherine A. Benson, Giancarlo Joli, Eric Olinger, Sravanthi Lavu, Charles D. Madsen, Adriana Gregory, Ruxandra Neatu, Timothy L. Kline, Marie‐Pierre Audrézet, Patricia Outeda, Cherie B. Nau, Esther Meijer, Hamad Ali, Theodore I. Steinman, Michal Mrug, Paul J. Phelan, Terry Watnick, Dorien J.M. Peters, Albert Ong, Peter J. Conlon, Ronald D. Perrone, Émilie Cornec-Le Gall, Marie C. Hogan, Vicente E. Torres, John A. Sayer, Peter C. Harris
Format:	Artigo
Language:	English
Published:	2021
Online Access:	https://doi.org/10.1016/j.ajhg.2021.11.016 https://www.cell.com/article/S0002929721004365/pdf
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