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De novo variants in the PABP domain of PABPC1 lead to developmental delay

Research output: Contribution to journal › Article › Academic › peer-review

DOI

https://doi.org/10.1016/j.gim.2022.04.013
Final published version

Meret Wegler
Xiangbin Jia
Marielle Alders
Arjan Bouman
Jia Chen
Xinyu Duan
Julie L. Lauzon
Inge B. Mathijssen
Heinrich Sticht
Steffen Syrbe
Senwei Tan
Hui Guo
Rami Abou Jamra

Original language	English
Pages (from-to)	1761-1773
Number of pages	13
Journal	Genetics in medicine
Volume	24
Issue number	8
Early online date	2022
DOIs	https://doi.org/10.1016/j.gim.2022.04.013
Publication status	Published - Aug 2022

Research areas

Epilepsy, Exome, Intellectual disability, Neural progenitor cells, Neurodevelopmental disorder

ID: 23557362