Varaico: Literature-Extracted Genetic Variants

Gene:AIRE
Variant:p.S332N
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AIRE

NM_000383.4:p.S332N

Associated Papers

Distinct mutations in the autoimmune regulator gene differentially affect transcriptional and functional properties of medullary thymic epithelial cells.

Tanaka PP et al.

Human Molecular Genetics, 2026

Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis.

Frede N et al.

Journal of Clinical Immunology, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."