Published in
American Society for Clinical Investigation, Journal of Clinical Investigation, 2(134), 2024
DOI: 10.1172/jci170882
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Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature death
Journal article published in 2024 by
Denisa Weis 
,
Liangguang L. Lin ,
Huilun H. Wang,
Zexin Jason Li,
Katarina Kusikova,
Peter Ciznar ,
Hermann M. Wolf,
Alexander Leiss-Piller,
Zhihong Wang ,
Xiaoqiong Wei ,
Serge Weis ,
Katarina Skalicka,
Gabriela Hrckova,
Lubos Danisovic,
Andrea Soltysova
and other authors.
,
Liangguang L. Lin ,
Huilun H. Wang,
Zexin Jason Li,
Katarina Kusikova,
Peter Ciznar ,
Hermann M. Wolf,
Alexander Leiss-Piller,
Zhihong Wang ,
Xiaoqiong Wei ,
Serge Weis ,
Katarina Skalicka,
Gabriela Hrckova,
Lubos Danisovic,
Andrea Soltysova
and other authors.
This paper is made freely available by the publisher.
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