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Acquired mutations in the colony-stimulating factor 3 receptor gene ( CSF3R ), truncating the cytosolic region of the CSF3R protein, were discovered almost two decades ago in severe congenital neutropenia (SCN) patients receiving CSF3 treatment to alleviate neutropenia. These CSF3R mutations are

Severe congenital neutropenia and chronic neutrophilic leukemia: an intriguing molecular connection unveiled by oncogenic mutations in CSF3R