Varaico: Literature-Extracted Genetic Variants

Gene:AIRE
Variant:p.S217P
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AIRE

NM_000383.4:p.S217P

Associated Papers

Analysis of genes involved in immune response in children with HLH - case series.

Gowin E et al.

Pediatric Rheumatology Online Journal, 2025

41272719 (PubMed )
Supplement: 12969_2025_1169_MOESM4_ESM.pdf
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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."