Varaico: Literature-Extracted Genetic Variants

Gene:AIRE
Variant:p.A134delFs
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AIRE

NM_000383.4:p.A134delFs

Associated Papers

Long-term follow-up of autoimmune polyendocrine syndrome type-1 in Norway.

Kucuka I et al.

The Journal of Clinical Endocrinology and Metabolism, 2026

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

Late-onset autoimmune polyendocrine syndrome type 1: a case report and literature review.

Zhan F et al.

Immunologic Research, 2021

Autoantibodies against type I interferons as an additional diagnostic criterion for autoimmune polyendocrine syndrome type I.

Meloni A et al.

The Journal of Clinical Endocrinology and Metabolism, 2008

Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene.

Wolff AS et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

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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."