Article

Dominant-negative mutations in CBX1 cause a neurodevelopmental disorder

medRxiv · 2023 · Kuroda, Y.; Iwata-Otsubo, A.; Dias, K.-R.; Lindsay-Temple, S.; Nagao, K.; De Hayr, L.; Zhu, Y.; Isobe, S.-Y.; Nishibuchi, G.; Fiordaliso, S.; Fujita, Y.; Rippert, A. L.; Baker, S. W.; Leung, M. L.; Koboldt, D. C.; Harman, A.; Keena, B. A.; Kazama, I.; Musuwadi Subramanian, G.; Manickam, K.; Schmalz, B.; Latsko, M.; Zackai, E.; Edwards, M.; Evans, C.-A.; Dulik, M. C.; Buckley, M. F.; Yamashita, T.; O'Brien, W. T.; Harvey, R. J.; Obuse, C.; Roscioli, T.; Izumi, K.

Key facts

Title Dominant-negative mutations in CBX1 cause a neurodevelopmental disorder
First author Kuroda, Y.; Iwata-Otsubo, A.; Dias, K.-R.; Lindsay-Temple, S.; Nagao, K.; De Hayr, L.; Zhu, Y.; Isobe, S.-Y.; Nishibuchi, G.; Fiordaliso, S.; Fujita, Y.; Rippert, A. L.; Baker, S. W.; Leung, M. L.; Koboldt, D. C.; Harman, A.; Keena, B. A.; Kazama, I.; Musuwadi Subramanian, G.; Manickam, K.; Schmalz, B.; Latsko, M.; Zackai, E.; Edwards, M.; Evans, C.-A.; Dulik, M. C.; Buckley, M. F.; Yamashita, T.; O'Brien, W. T.; Harvey, R. J.; Obuse, C.; Roscioli, T.; Izumi, K.
Journal medRxiv
Published Jan 12, 2023
DOI 10.1101/2020.09.29.319228
Devices mentioned BK110039, K103302, K852441, K854177, K854178, K854179, K854180, K854181, K854182, K854183, K854184, K854185 and 3 more
Product codes mentioned KIT, NDS, NJT, OOI, PCA

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