Associated Papers
Systematic and proactive evaluation of AIRE missense variant effects.
Axakova A et al.
Biorxiv : the Preprint Server for Biology, 2025
41332640 (PubMed )
Supplement: media-2.xlsx › Variant_Data_Table
Clinical and genetic characteristics of hypoparathyroidism in children: a multicenter experience in China.
Shen Y et al.
Journal of Endocrinological Investigation, 2025
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
Berger SI et al.
Human Genetics, 2017
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