Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: Novel genotypes and phenotypic variability in severe congenital neutropenia

Kaan Boztug, Philip S. Rosenberg, Marie Dorda, Siddharth Banka, Thomas Moulton, Julie Curtin, Nima Rezaei, John Corns, Jeffrey W. Innis, Zekai Avci, Hung Chi Tran, Isabelle Pellier, Paolo Pierani, Rachel Fruge, Nima Parvaneh, Setareh Mamishi, Rajen Mody, Phil Darbyshire, Jayashree Motwani, Jennie MurrayGeorge R. Buchanan, William G. Newman, Blanche P. Alter, Laurence A. Boxer, Jean Donadieu, Karl Welte, Christoph Klein

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Medicine & Life Sciences