Varaico: Literature-Extracted Genetic Variants

Gene:AIRE
Variant:p.R132S
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AIRE

NM_000383.4:p.R132S

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 › APS-1_patient_cohort

Selected Genetic Factors Associated with Primary Ovarian Insufficiency.

Chen M et al.

International Journal of Molecular Sciences, 2023

A Novel Homozygous Mutation of the AIRE Gene in an APECED Patient From Pakistan: Case Report and Review of the Literature.

Pellegrino M et al.

Frontiers in Immunology, 2018

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