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
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
Arts P et al.
Genome Medicine, 2019
Mutation analysis of adenomas and carcinomas of the colon: Early and late drivers.
Wolff RK et al.
Genes, Chromosomes & Cancer, 2018
29575536 (PubMed )
Supplement: GCC-57-366-s004.xlsx › MSI
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