Associated Papers
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
Paediatric autoimmune diseases with ELANE mutations associated with neutropenia.
Zhang D et al.
Pediatric Rheumatology Online Journal, 2023
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar
Select a paper to view details