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Biallelic Loss-of-function Variants of ZFTRAF1 Cause Neurodevelopmental Disorder with Microcephaly and Hypotonia

Maria Asif,Arwa Ishaq A. Khayyat,Salem Alawbathani,Uzma Abdullah,Anne Sanner,Theodoros Georgomanolis, Judith Haasters,Kerstin Becker,Birgit Budde,Christian Becker,Holger Thiele,Shahid M. Baig,Maria Isidoro-Garcia,Dominic Winter,Hans -Martin Pogoda,Sajjad Muhammad,Matthias Hammerschmidt,Florian Kraft,Ingo Kurth,Hilario Gomez Martin,Matias Wagner,Peter Nuernberg,Muhammad Sajid Hussain

GENETICS IN MEDICINE（2024）

Cited 0|Views34
Key words
Autophagy,CYHR1,mRNA processing,Neurodevelopmental disorders,ZFTRAF1
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