Varaico: Literature-Extracted Genetic Variants

Gene:AIRE
Variant:p.Q293_K294Splc
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AIRE

NM_000383.4:p.Q293_K294Splc

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

A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1.

Oftedal BE et al.

The Journal of Clinical Investigation, 2023

Pregnancy Outcome in Women With APECED (APS-1): A Multicenter Study on 43 Females With 83 Pregnancies.

Laakso S et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

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

Zhan F et al.

Immunologic Research, 2021

A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1.

Bruserud Ø et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

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."