Associated Papers
Genotype-phenotype correlations in specific granule deficiency: loss of DNA-binding ability and impaired nuclear localization cause severe manifestations due to the c.655_665del CEBPE variant.
Tamaru T et al.
Clinical and Experimental Immunology, 2025
A Novel CEBPE Variant Causes Severe Infections and Profound Neutropenia.
Banday AZ et al.
Journal of Clinical Immunology, 2022
Select a paper to view details