Article

Cell Modeling and Rescue of a Novel Non-coding Genetic Cause of Glycogen Storage Disease IX

2025-05-17

Abstract excerpt

Delayed diagnosis of Mendelian disease substantially prevents early therapeutic intervention that could improve symptoms and prognosis. One major contributing challenge is the functional interpretation of non-coding variants that cause disease by altering splicing and/or gene expression. We identified two siblings with glycogen storage disease (GSD) type IX γ2, both of whom had a classic clinical presentation, enz...

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Literature Corpus work: 24649fd0-2ee5-59bc-991f-b714e0e07193
DOI: 10.1101/2025.05.14.654043

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