Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.R143H
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ELANE

NM_001972.4:p.R143H

Associated Papers

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
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