Varaico: Literature-Extracted Genetic Variants

Gene:AIRE
Variant:p.D76Y
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AIRE

NM_000383.4:p.D76Y

Associated Papers

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

Capalbo D et al.

International Journal of Endocrinology, 2012

APECED mutations in the autoimmune regulator (AIRE) gene.

Heino M et al.

Human Mutation, 2001

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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."