Systematic and proactive evaluation of AIRE missense variant effects
Anna Axakova, Amund Holte Berger, Warren van Loggerenberg, Nishka Kishore, Marinella Gebbia, M. Ding, Samuel V. Douville, Daniel R. Tabet, Atina G. Coté, Jochen Weile, Stefan Johansson, Eirik Bratland, Frederick P. Roth
This study proactively evaluates the functional effects of 9790 AIRE missense variants using a reporter assay, providing evidence for 70% of previously classified variants of uncertain significance.
The American Journal of Human Genetics · Aug 6, 2026Peer-reviewedGenetics