Varaico: Literature-Extracted Genetic Variants

Gene:AIRE
Variant:p.T68A
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AIRE

NM_000383.4:p.T68A

Associated Papers

Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism.

Cranston T et al.

European Journal of Endocrinology, 2022

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

Zhan F et al.

Immunologic Research, 2021

FBXO3 Protein Promotes Ubiquitylation and Transcriptional Activity of AIRE (Autoimmune Regulator).

Shao W et al.

The Journal of Biological Chemistry, 2016

DNA-PK contributes to the phosphorylation of AIRE: importance in transcriptional activity.

Liiv I et al.

Biochimica Et Biophysica Acta, 2008

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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."