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ArticleMolecular neurobiology2023

A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function.

Andreas Hentschel et al.PubMed ↗Full text ↗Publisher ↗

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Full record →Abstract, authors, funding and every citing paper · PMID 36692708