Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome

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Authors: Daniel Epting, Lokuliyange D. S. Senaratne, Elisabeth Ott, Asbjørn Holmgren, Dulika Sumathipala, Selma M. Larsen, Julia Wallmeier, Diana Bracht, Kari‐Anne M. Frikstad, Suzanne Crowley, Alma Sikiric, Tuva Barøy, Barbara Käsmann‐Kellner, Eva Decker, Christian Decker, Nadine Bachmann, Sebastian Patzke, Ian G. Phelps, Nicholas Katsanis, Rachel Giles, Miriam Schmidts, Manuela Zucknick, Soeren S.

Journal title: Human Mutation

Journal number: 41/12

Journal publisher: John Wiley & Sons Inc.

Published year: 2020

Published pages: 2179-2194

DOI identifier: 10.1002/humu.24127

ISSN: 1059-7794