Varaico: Literature-Extracted Genetic Variants

Gene:AIRE
Variant:p.S64_Q69del6
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AIRE

NM_000383.4:p.S64_Q69del6

Associated Papers

Autoimmune hyperglycemia: beyond type 1 diabetes.

Rutigliano I et al.

Acta Diabetologica, 2025

An Extraordinary Case of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Syndrome Misdiagnosed as Juvenile Idiopathic Arthritis on Admission.

Aytac G et al.

Case Reports in Immunology, 2023

Childhood Polyarthritis As Early Manifestation of Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy Syndrome.

Gutierrez MJ et al.

Frontiers in Immunology, 2017

Two novel mutations of the AIRE protein affecting its homodimerization properties.

Meloni A et al.

Human Mutation, 2005

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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."