A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function

Al-deri, N., Okur, V., Ahimaz, P., Milev, M., Valivullah, Z., Hagen, J., Sheng, Y., Chung, W., Sacher, M., & Ganapathi, M. (2020). A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function. Journal of Medical Genetics, 58(9), 592–601. https://doi.org/10.1136/jmedgenet-2020-107016
Authors:
Noraldin Al-Deri
Volkan Okur
Priyanka Ahimaz
Miroslav Milev
Zaheer Valivullah
Jacob Hagen
Yufeng Sheng
Wendy Chung
Michael Sacher
Mythily Ganapathi
Affiliated Authors:
Volkan Okur
Priyanka Ahimaz
Jacob Hagen
Yufeng Sheng
Wendy Chung
Mythily Ganapathi
Author Keywords:
genetics
medical
genetics, medical
Publication Type:
Article
Unique ID:
10.1136/jmedgenet-2020-107016
PMID:
Publication Date:
Data Source:
Scopus

Record Created: