Varaico: Literature-Extracted Genetic Variants

Gene:AIRE
Variant:p.V301A
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AIRE

NM_000383.4:p.V301A

Associated Papers

Association of Autoimmune Regulator Gene Rs2075876 Variant, but Not Gene Expression with Alopecia Areata in Males: A Case-control Study.

Toraih EA et al.

Immunological Investigations, 2020

AIRE genetic variants and predisposition to polygenic autoimmune disease: The case of Graves' disease and a systematic literature review.

Colobran R et al.

Human Immunology, 2016

Analysis of the autoimmune regulator gene in patients with autoimmune non-APECED polyendocrinopathies.

Palma A et al.

Genomics, 2013

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: insights into genotype-phenotype correlation.

Capalbo D et al.

International Journal of Endocrinology, 2012

Investigation of the p.Ser278Arg polymorphism of the autoimmune regulator (AIRE) gene in alopecia areata.

Pforr J et al.

Tissue Antigens, 2006

Role of the autoimmune regulator (AIRE) gene in alopecia areata: strong association of a potentially functional AIRE polymorphism with alopecia universalis.

Tazi-Ahnini R et al.

Tissue Antigens, 2002

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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."