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Fountain Health NYC Glutathione Therapy Functional Assays Combined with PremRNASplicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome Douben 2023 Human Mutation Wiley Online Library Cell autonomous requirement of Neurofibromin (Nf1) for postnatal muscle hypertrophic growth and metabolic homeostasis bioRxiv Metabolic Features of Neurofibromatosis Type 1 Associated Tumors IntechOpen
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