A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function
Molecular neurobiology（2023）
关键词
NEDHFBA,Proteasome,Fibroblast cytoskeleton,Fibroblast proteomics,Fibroblast electron microscopy,Fibroblast filopodia
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