Varaico: Literature-Extracted Genetic Variants

Gene:AIRE
Variant:p.Q94*
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AIRE

NM_000383.4:p.Q94*

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 › Mutagenic_and_Tiling_Primers

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

Zhan F et al.

Immunologic Research, 2021

Autoimmune Polyendocrinopathy.

Frommer L et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1.

Orlova EM et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

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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."