Varaico: Literature-Extracted Genetic Variants

Gene:AIRE
Variant:p.E17K
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AIRE

NM_000383.4:p.E17K

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 › Variant_Data_Table

Prediction of disease-related mutations affecting protein localization.

Laurila K et al.

Bmc Genomics, 2009

Novel homozygous AIRE mutation in a German patient with severe APECED.

von Schnurbein J et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2008

Genetics of type 1 diabetes mellitus.

Pociot F et al.

Genes and Immunity, 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."