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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AIRE

Variant:p.A281_P282del2

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AIRE

NM_000383.4:p.A281_P282del2

hg38:chr21:44290029 CGCCCCT>C

Associated Papers

Novel recurrent mutations and genetic diversity in Sudanese children with adrenal insufficiency.

Musa SA et al.

European Journal of Endocrinology, 2025

40063902 (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."