Varaico: Literature-Extracted Genetic Variants

Gene:AIRE
Variant:p.D297E
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AIRE

NM_000383.4:p.D297E

Associated Papers

Recurrent Hypokalemia and Adrenal Steroids in Patients With APECED.

Borchers J et al.

Frontiers in Endocrinology, 2022

Patients with autoimmune polyendocrine syndrome type 1 have an increased susceptibility to severe herpesvirus infections.

Hetemäki I et al.

Clinical Immunology (orlando, Fla.), 2021

Severe Phenotype of APECED (APS1) Increases Risk for Structural Bone Alterations.

Laakso S et al.

Frontiers in Endocrinology, 2020

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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."