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Deeksha Sarihyan Bali

Professor of Pediatrics
Pediatrics, Medical Genetics
4th Floor, GSRBI, 905 LaSalle Street, Division of Medical Genetics, Durham, NC 27710
801 Capitola Drive, Suite 6, Durham, NC 27713

Scholarly Works - Preprints


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

Preprint · May 17, 2025 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 ... Full text Link to item Cite