Associated Papers
Low frequency of treatable pediatric disease alleles in gnomAD: An opportunity for future genomic screening of newborns.
Gold NB et al.
Hgg Advances, 2022
In Silico Analysis Revealed Five Novel High-Risk Single-Nucleotide Polymorphisms (rs200384291, rs201163886, rs193141883, rs201139487, and rs201723157) in ELANE Gene Causing Autosomal Dominant Severe Congenital Neutropenia 1 and Cyclic Hematopoiesis.
Shinwari K et al.
Thescientificworldjournal, 2022
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
Brief Report: A Novel ELANE Mutation Associated With Inflammatory Arthritis, Defective NETosis, and Recurrent Parvovirus Infection.
Thanarajasingam U et al.
Arthritis & Rheumatology (hoboken, N.j.), 2017
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