Varaico: Literature-Extracted Genetic Variants

Gene:AIRE
Variant:p.A58V
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AIRE

NM_000383.4:p.A58V

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 › APS-1_patient_cohort

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

Cranston T et al.

European Journal of Endocrinology, 2022

Pregnancy Outcome in Women With APECED (APS-1): A Multicenter Study on 43 Females With 83 Pregnancies.

Laakso S et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

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

Zhan F et al.

Immunologic Research, 2021

Dual functions of Aire CARD multimerization in the transcriptional regulation of T cell tolerance.

Huoh YS et al.

Nature Communications, 2020

[Clinical case report: history of diagnosis and clinical features of type autoimmune polyglandular syndrome 1].

Troshina VV et al.

Problemy Endokrinologii, 2019

Autoimmune Polyendocrinopathy.

Frommer L et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1.

Orlova EM et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

[SPECIFIC CLINICAL FEATURES OF TYPE 1 AUTOIMMUNE POLYGLANDULAR SYNDROME].

Mikhina MS et al.

Klinicheskaia Meditsina, 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."