In vivo bioassay to test the pathogenicity of missense human AIP variants

ED Aflorei, B Klapholz, C Chen, S Radian… - Journal of Medical …, 2018 - jmg.bmj.com
Background Heterozygous germline loss-of-function mutations in the aryl hydrocarbon
receptor-interacting protein gene (AIP) predispose to childhood-onset pituitary tumours. The …