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

      Aflorei, ED; Klapholz, B; Chen, C; Radian, S; Dragu, AN; Moderau, N; Prodromou, C; Ribeiro, PS; Stanewsky, R; Korbonits, M (2018-08)
      BACKGROUND: Heterozygous germline loss-of-function mutations in the aryl hydrocarbon receptor-interacting protein gene (AIP) predispose to childhood-onset pituitary tumours. The pathogenicity of missense variants may pose ...