Associated Papers
De Novo Missense Variant c.170 C > A of ELANE in a Chinese Infant with Congenital Neutropenia: Case Report and Literature Review.
Chen X et al.
Journal of Clinical Immunology, 2025
Sequence-structure based prediction of pathogenicity for amino acid substitutions in proteins associated with primary immunodeficiencies.
Porfireva ES et al.
Frontiers in Immunology, 2025
The genetic landscape of congenital neutropenia in Poland: summary of the nationwide screening campaign.
Bąbol-Pokora K et al.
Frontiers in Immunology, 2025
41383606 (PubMed )
Supplement: Table1.xlsx › Arkusz1
Severe Congenital Neutropenia in a Newborn Caused by a Novel Mutation in the ELANE Gene-First Report From North Macedonia and a Literature Review: A Case Report.
Zdraveska N et al.
Case Reports in Pediatrics, 2025
Cyclic Neutropenia From a Novel Mutation Ala57Asp of ELANE: Phenotypic Variability in Neutropenia From Mutated Ala57 Residue.
Park CH et al.
Journal of Pediatric Hematology/oncology, 2020
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