A novel de novo heterozygous variant in the SEC61A1 gene has been identified in a patient with severe congenital neutropenia. This discovery may enhance understanding of the genetic underpinnings of this rare condition.
identification of a novel de novo heterozygous sec61a1 variant in a patient with severe congenital neutropenia
Original title: “Identification of a Novel De Novo Heterozygous SEC61A1 Variant in a Patient With Severe Congenital Neutropenia.”