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ATP2B2 De Novo Variants As a Cause of Variable Neurodevelopmental Disorders That Feature Dystonia, Ataxia, Intellectual Disability, Behavioral Symptoms, and Seizures.

Elena Poggio,Lucia Barazzuol,Andrea Salmaso,Celeste Milani, Adamantia Deligiannopoulou,Angeles Garcia Cazorla,Se Song Jang,Natalia Julia-Palacios,Boris Keren,Robert Kopajtich,Sally Ann Lynch,Cyril Mignot,Catherine Moorwood,Christiane Neuhofer,Vincenzo Nigro,Anna Oostra,Holger Prokisch,Virginie Saillour,Nika Schuermans,Annalaura Torella,Patrick Verloo,Elise Yazbeck,Marcella Zollino,Robert Jech,Juliane Winkelmann,Jan Necpal,Tito Cali,Marisa Brini,Michael Zech

GENETICS IN MEDICINE（2023）

Cited 7|Views68
Key words
Ataxia,Dystonia,Plasma membraneCa2+ATPase,isoform 2,Neurodevelopmental disorder
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