Associated Papers
Systematic and proactive evaluation of AIRE missense variant effects.
Axakova A et al.
Biorxiv : the Preprint Server for Biology, 2025
41332640 (PubMed )
Supplement: media-2.xlsx › Variant_Data_Table
Autoimmune Lymphoproliferative Syndrome (ALPS) Disease and ALPS Phenotype: Are They Two Distinct Entities?
Palmisani E et al.
Hemasphere, 2023
Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.
Grossi A et al.
Genes, 2021
Primary Immunodeficiencies in India: Molecular Diagnosis and the Role of Next-Generation Sequencing.
Arunachalam AK et al.
Journal of Clinical Immunology, 2021
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