Varaico: Literature-Extracted Genetic Variants

Gene:AIRE
Variant:p.P282insFs
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AIRE

NM_000383.4:p.P282insFs

Associated Papers

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

Zhan F et al.

Immunologic Research, 2021

Renal failure associated with APECED and terminal 4q deletion: evidence of autoimmune nephropathy.

Al-Owain M et al.

Clinical & Developmental Immunology, 2010

Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients.

Faiyaz-Ul-Haque M et al.

Clinical Genetics, 2009

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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."