Varaico: Literature-Extracted Genetic Variants

Gene:AIRE
Variant:p.S107C
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AIRE

NM_000383.4:p.S107C

Associated Papers

Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients.

Garelli S et al.

Journal of Endocrinological Investigation, 2021

Altered B cell homeostasis and Toll-like receptor 9-driven response in patients affected by autoimmune polyglandular syndrome Type 1: Altered B cell phenotype and dysregulation of the B cell function in APECED patients.

Perri V et al.

Immunobiology, 2017

APECED: A Paradigm of Complex Interactions between Genetic Background and Susceptibility Factors.

De Martino L et al.

Frontiers in Immunology, 2013

Identification of two novel mutations in the first Sicilian APECED patient with no R203X mutation in AIRE gene and review of Italian APECED genotypes.

Valenzise M et al.

Gene, 2012

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

Capalbo D et al.

International Journal of Endocrinology, 2012

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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."