Varaico: Literature-Extracted Genetic Variants

Gene:AIRE
Variant:p.C302*
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AIRE

NM_000383.4:p.C302*

Associated Papers

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

Cranston T et al.

European Journal of Endocrinology, 2022

Autoimmune polyendocrine syndrome type 1 (APECED) in the Indian population: case report and review of a series of 45 patients.

Fierabracci A et al.

Journal of Endocrinological Investigation, 2021

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

Zhan F et al.

Immunologic Research, 2021

Autoimmune polyendocrine syndrome type 1 in an Indian cohort: a longitudinal study.

Zaidi G et al.

Endocrine Connections, 2017

Two novel AIRE mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) among Indians.

Zaidi G et al.

Clinical Genetics, 2009

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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."