Varaico: Literature-Extracted Genetic Variants

Gene:AIRE
Variant:p.G218Splc
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AIRE

NM_000383.4:p.G218Splc

Associated Papers

A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1.

Oftedal BE et al.

The Journal of Clinical Investigation, 2023

Background splicing as a predictor of aberrant splicing in genetic disease.

Alexieva D et al.

Rna Biology, 2022

35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › DBASS3_index

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

Zhan F et al.

Immunologic Research, 2021

AIRE-mutations and autoimmune disease.

Bruserud Ø et al.

Current Opinion in Immunology, 2016

New splice site acceptor mutation in AIRE gene in autoimmune polyendocrine syndrome type 1.

Mora M et al.

Plos One, 2014

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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."