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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AIRE

Variant:p.H292_Q293delFs

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AIRE

NM_000383.4:p.H292_Q293delFs

hg38:chr21:44290064 ACC>A

Associated Papers

Clinical and genetic characteristics of hypoparathyroidism in children: a multicenter experience in China.

Shen Y et al.

Journal of Endocrinological Investigation, 2025

39531207 (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."