@article{dd057f4776ba42ad8f7737c2cc34d0bc,
title = "Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia and premature death",
author = "Denisa Weis and Lin, \{Liangguang Leo\} and Wang, \{Huilin Helen\} and Li, \{Zexin Jason\} and Katarina Kusikova and Peter Ciznar and Wolf, \{Hermann M\} and Alexander Leiss-Piller and Zhihong Wang and Xiaoqiong Wei and Serge Weis and Katarina Skalicka and Gabriela Hr{\v c}kov{\'a} and Lubos Danisovic and Andrea Soltysova and Yang, \{Tingxuan Tina\} and Feichtinger, \{Rene G{\"u}nther\} and Mayr, \{Johannes A.\} and Ling Qi",
year = "2023",
month = nov,
doi = "10.1172/JCI170882",
language = "English",
volume = "134",
journal = "The Journal of Clinical Investigation",
issn = "0021-9738",
number = "2",
}