Varaico: Literature-Extracted Genetic Variants

Gene:AIRE
Variant:p.E45*
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AIRE

NM_000383.4:p.E45*

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

Enrichment of Immune Dysregulation Disorders in Adult Patients with Human Inborn Errors of Immunity.

Segura-Tudela A et al.

Journal of Clinical Immunology, 2024

38363452 (PubMed )
Supplement: 10875_2024_1664_MOESM1_ESM.docx

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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