Unraveling novel variants in the NF1 gene and investigating potential therapeutic strategies

Abstract excerpt

Germline mutations in the NF1 gene disrupt neurofibromin function, leading to autosomal-dominant neurofibromatosis type I (NF1). As a tumor suppressor, neurofibromin negatively regulates the RAS signaling. NF1 presents notable phenotypic variability, progressive symptoms with age, and potential malignant transformation. Early screening, diagnosis, and necessary interventions are essential for improving patient...

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