Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1
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Neurofibromatosis type 1 (NF1), an autosomal dominant disorder characterized by skin pigmentary lesions and multiple cutaneous neurofibromas, is caused by neurofibromin 1 (NF1) loss of function variants. Currently, a molecular diagnosis is frequently establish... ...
