A novel homozygous VPS45 p.P468L mutation leading to severe congenital neutropenia with myelofibrosis.
Shah RK, Munson M, Wierenga KJ, Pokala HR, Newburger PE, Crawford D. A novel homozygous VPS45 p.P468L mutation leading to severe congenital neutropenia with myelofibrosis. Pediatr Blood Cancer. 2017 Sep; 64(9).