TUBB4B variants specifically impact ciliary function, causing a ciliopathic spectrum

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Authors: Sabrina Mechaussier, Daniel O Dodd, Patricia L Yeyati, Fraser McPhie, Thomas Attard, Amelia Shoemark, Deepesh K Gupta, Maimoona A Zariwala, Marie Legendre, Diana Bracht, Julia Wallmeier, Miao Gui, Jacob R Anderson, Mahmoud R Fassad, David A Parry, Peter A Tennant, Alison Meynert, Gabrielle Wheway, Lucas Fares-Taie, Holly A Black, Rana Mitri-Frangieh, Catherine Faucon, Josseline Kaplan, Mitali Pat

Journal title: medRXiv

Journal publisher: Cold Spring Harbor Laboratory

Published year: 2022

DOI identifier: 10.1101/2022.10.19.22280748

ISSN: 2692-8205