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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AIRE

Variant:p.D312_L327delFs

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AIRE

NM_000383.4:p.D312_L327delFs

hg38:chr21:44291150 ACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGC>A

Associated Papers

Early recognition of the APECED rash can accelerate the diagnosis of APECED.

Ferré EMN et al.

Clinical Immunology Communications, 2024

38560426 (PubMed )

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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."