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Biallelic USP14 Variants Cause a Syndromic Neurodevelopmental Disorder

Frederic Ebstein,Xenia Latypova, Ka Ying Sharon Hung,Miguel A. Prado,Byung-Hoon Lee,Sophie Moeller,Martin Wendlandt,Barbara A. Zieba,Laetitia Florenceau,Virginie Vignard, Lea Poirier,Berenice Toutain,Isabella Moroni,Charlotte Dubucs,Nicolas Chassaing,Judit Horvath,Holger Prokisch,Sebastien Kury,Stephane Bezieau,Joao A. Paulo,Daniel Finley,Elke Krueger,Daniele Ghezzi,Bertrand Isidor

Genetics in Medicine（2024）

Cited 0|Views31
Key words
Loss-of-function variants,N-terminal methionine excision,Neurodevelopmental disorders,Ubiquitin-proteasome system,USP14
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