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Early Onset Nonprogressive Generalized Dystonia Is Caused by Biallelic SHQ1 Variants.
Anna Revert Barberà
Guerau Fernández Isern
Juan Dario Ortigoza-Escobar
Published in:
Movement disorders : official journal of the Movement Disorder Society (2023)
Keyphrases
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early onset
late onset
copy number
intellectual disability
autism spectrum disorder
gene expression
deep brain stimulation