4.7 Article

The Number of Surgical Interventions and Specialists Involved in the Management of Patients with Neurofibromatosis Type I: A 25-Year Analysis

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Summary: Neurofibromatosis type 1 (NF1) is a genetic disorder with numerous disease-causing variants within the NF1 gene. A study showed that a specific PMO can mask a variant on the RNA level to restore normal splicing, resulting in significant restoration of neurofibromin protein functionality.

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