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PDFNeurogenetics
Original research
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome
- Correspondence to Professor Enza Maria Valente, Department of Molecular Medicine, University of Pavia, Pavia 27100, Italy; enzamaria.valente{at}unipv.it
Citation
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome
Publication history
- Received May 24, 2022
- Accepted January 8, 2023
- First published February 14, 2023.
Online issue publication
October 18, 2023
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© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.