Varaico: Literature-Extracted Genetic Variants

Gene:AIRE
Variant:p.Q44_E45Splc
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AIRE

NM_000383.4:p.Q44_E45Splc

Associated Papers

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

Zhan F et al.

Immunologic Research, 2021

Alterations of the autoimmune regulator transcription factor and failure of central tolerance: APECED as a model.

Gallo V et al.

Expert Review of Clinical Immunology, 2013

Genetic basis of altered central tolerance and autoimmune diseases: a lesson from AIRE mutations.

Capalbo D et al.

International Reviews of Immunology, 2012

Molecular background and genotype-phenotype correlation in autoimmune-polyendocrinopathy-candidiasis-ectodermal-distrophy patients from Campania and in their relatives.

Capalbo D et al.

Journal of Endocrinological Investigation, 2012

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: insights into genotype-phenotype correlation.

Capalbo D et al.

International Journal of Endocrinology, 2012

Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence.

Stolarski B et al.

Clinical Genetics, 2006

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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."