Varaico: Literature-Extracted Genetic Variants

Gene:AIRE
Variant:p.R15fs
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AIRE

NM_000383.4:p.R15fs

Associated Papers

Clinical, Genetic and Immunological Characteristics of Paediatric Autoimmune Polyglandular Syndrome Type 1 Patients in Slovenia.

Bratanic N et al.

Zdravstveno Varstvo, 2015

Detection of a complete autoimmune regulator gene deletion and two additional novel mutations in a cohort of patients with atypical phenotypic variants of autoimmune polyglandular syndrome type 1.

Podkrajsek KT et al.

European Journal of Endocrinology, 2008

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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."