Varaico: Literature-Extracted Genetic Variants

Gene:AIRE
Variant:p.G218Splc
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AIRE

NM_000383.4:p.G218Splc

Associated Papers

Analysis of the AIRE Gene Promoter in Patients Affected by Autoimmune Polyendocrine Syndromes.

Cudini A et al.

International Journal of Molecular Sciences, 2024

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

Zhan F et al.

Immunologic Research, 2021

Revisiting the morbid genome of Mendelian disorders.

Abouelhoda M et al.

Genome Biology, 2016

27884173 (PubMed )
Supplement: 13059_2016_1102_MOESM5_ESM.pdf
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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."