Varaico: Literature-Extracted Genetic Variants

Gene:AIRE
Variant:p.C311*
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AIRE

NM_000383.4:p.C311*

Associated Papers

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

37909333 (PubMed )
Supplement: jci-133-169704-s095.pdf

A novel AIRE mutation leads to autoimmune polyendocrine syndrome type-1.

Qian G et al.

Frontiers in Cell and Developmental Biology, 2022

Mechanistic dissection of dominant AIRE mutations in mouse models reveals AIRE autoregulation.

Goldfarb Y et al.

The Journal of Experimental Medicine, 2021

Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases.

Oftedal BE et al.

Immunity, 2015

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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."