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Wiley, Human Mutation: Variation, Informatics and Disease, 12(41), p. 2179-2194, 2020

DOI: 10.1002/humu.24127

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

Journal article published in 2020 by 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 and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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