Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I.

When considering neoplasms, carriers of variants falling in the extradomain region at the 5′ end of NF1 had a lower age‐related cancer frequency than the rest of the gene sequence, showing a borderline significance ( p = 0.045), which was not conserved after correction with covariates.

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