학술논문
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome
Document Type
Article
Author
Engal, E.; Geminder, O.; Salton, M.; Oja, K.T.; Muru, K.; Pajusalu, S.; Õunap, K.; Maroofian, R.; Houlden, H.; Le, T.-L.; Guimier, A.; Amiel, J.; Lyonnet, S.; Gordon, C.T.; Marzin, P.; Mor, E.; Zvi, N.; Elefant, N.; Elpeleg, O.; Harel, T.; Mor-Shaked, H.; Zaki, M.S.; Gleeson, J.G.; Wojcik, M.H.; Pachat, D.; Elmaksoud, M.A.; Chan Jeong, W.; Lee, H.; Bauer, P.; Zifarelli, G.; Daana, M.
Source
In: American Journal of Human Genetics . (American Journal of Human Genetics, 7 December 2023, 110(12):2112-2119)
Subject
Language
English
ISSN
15376605
00029297
00029297