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Paper Details

A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function.
Mol Neurobiol
1
2023
Author NameAffiliation
Rita HorvathSchool of Clinical Medicine, University of Cambridge
Rachel ThompsonChildren's Hospital of Eastern Ontario Research Institute Division of Neurology, The Ottawa Hospital and Brain and Mind Research Institute, University of Ottawa
Hanns Lochm??llerChildren's Hospital of Eastern Ontario Research Institute Division of Neurology, The Ottawa Hospital and Brain and Mind Research Institute, University of Ottawa
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