Functional characterization of 42 GAA missense variants using a validated in vitro cellular functional assay

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• Genomics and Rare Diseases
• Glycogen Storage Diseases and Myoclonus
• Lysosomal Storage Disorders Research

Identifiers and source

Literature Corpus work

be5dafd3-7246-52bc-aba3-f860c24e1e40

DOI

10.1016/j.ymgme.2026.110237