학술논문
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder
Document Type
Article
Author
Broly, M.; Besnard, T.; Deb, W.; Bézieau, S.; Isidor, B.; Cogné, B.; Polevoda, B.V.; Awayda, K.M.; Tong, N.; O'Connell, M.R.; Lentini, J.; Fu, D.; O'Rourke, D.; Baptista, J.; Ellard, S.; Almannai, M.; Hashem, M.; Abdulwahab, F.; Shamseldin, H.; Alkuraya, F.S.; Al-Tala, S.; Leon, A.; van Loon, R.L.E.; Ferlini, A.; Sanchini, M.; Bigoni, S.; Ciorba, A.; van Bokhoven, H.; Iqbal, Z.; Al-Maawali, A.; Al-Murshedi, F.; Ganesh, A.; Al-Mamari, W.; Lim, S.C.; Brown, N.; Pais, L.S.; Riazuddin, S.
Source
In: American Journal of Human Genetics . (American Journal of Human Genetics, 7 April 2022, 109(4):587-600)
Subject
Language
English
ISSN
15376605
00029297
00029297