THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder
ORCID
- Julia Baptista: 0000-0003-0915-5028
DOI
10.1016/j.ajhg.2022.02.001
Publication Date
2022-01-01
Publication Title
The American Journal of Human Genetics
Volume
109
Issue
4
ISSN
0002-9297
Embargo Period
9999-12-31
First Page
587
Last Page
600
Recommended Citation
Cogné, B., Broly, M., Polevoda, B., Awayda, K., Tong, N., Lentini, J., Besnard, T., Deb, W., O’Rourke, D., Baptista, J., Ellard, S., Almannai, M., Hashem, M., Abdulwahab, F., Shamseldin, H., Al-Tala, S., Alkuraya, F., Leon, A., van, L., Ferlini, A., Sanchini, M., Bigoni, S., Ciorba, A., van, B., Iqbal, Z., Al-Maawali, A., Al-Murshedi, F., Ganesh, A., Al-Mamari, W., & Lim, S. (2022) 'THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder', The American Journal of Human Genetics, 109(4), pp. 587-600. Available at: https://doi.org/10.1016/j.ajhg.2022.02.001
