NEW YORK (GenomeWeb) – Certain mutations within the NF1 gene are associated with more severe neurofibromatosis type 1 symptoms, a new study has found.

NF1 is a common genetic disease, affecting one in every 2,000 to 3,000 births, that is caused by loss-of-function mutations in the NF1 gene. Patients' symptoms, though, can vary and may include freckles in skin folds, neurofibromas, developmental delay, and more.

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