Associated Papers
ELANE rs17223045C/T and rs3761007G/A variants: Protective factors against COVID-19.
Fragoso JM et al.
Biomolecules & Biomedicine, 2024
Common and rare variants in patients with early onset drusen maculopathy.
de Breuk A et al.
Clinical Genetics, 2022
36053979 (PubMed )
Supplement: CGE-102-414-s006.xlsx › Blad_1
Genetic variation in genes of inborn errors of immunity in children with unexplained encephalitis.
Malik D et al.
Genes and Immunity, 2022
Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals.
D'Alterio G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
35511137 (PubMed )
Supplement: mmc1.xls › supplementary_table4
Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.
Kernan KF et al.
Journal of Clinical Immunology, 2022
34973142 (PubMed )
Supplement: 10875_2021_1183_MOESM7_ESM.xlsx › data.and.gnomad.MAF.chi.sq.BH.c
Variability in genes related to SARS-CoV-2 entry into host cells (ACE2, TMPRSS2, TMPRSS11A, ELANE, and CTSL) and its potential use in association studies.
Vargas-Alarcón G et al.
Life Sciences, 2020
Deciphering the Genetics of Primary Angioedema with Normal Levels of C1 Inhibitor.
Loules G et al.
Journal of Clinical Medicine, 2020
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
31813827 (PubMed )
Supplement: mmc2.xlsx › SNVs
Spectrum of ELANE mutations in congenital neutropenia: a single-centre study in patients of Indian origin.
Arun AK et al.
Journal of Clinical Pathology, 2018
The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.
Germeshausen M et al.
Human Mutation, 2013
Bioinformatic analysis of protein structure-function relationships: case study of leukocyte elastase (ELA2) missense mutations.
Thusberg J et al.
Human Mutation, 2006
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