GenomicsFrontiers in ImmunologyPeer-reviewed
High-Resolution Transcriptional Impact of AIRE: Effects of Pathogenic Variants p.Arg257Ter, p.Cys311Tyr, and Polygenic Risk Variant p.Arg471Cys
Amund Holte Berger, Bergithe Eikeland Oftedal, Anette S. B. Wolff…·Stefan Johansson
The paper evaluates the transcriptional impact of three AIRE variants using a cell system, showing different functional effects on gene expression.
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