Deep mutational scanning of the human insulin receptor ectodomain to inform precision therapy for insulin resistance
Vahid Aslanzadeh, Gemma V. Brierley, Rupa Kumar, Hasan Çubuk, Corinne Vigouroux, Kenneth A. Matreyek, Grzegorz R. Kudla, Robert K. Semple
The paper uses deep mutational scanning to assess the functional impact of INSR variants, identifying clinically relevant function scores and potential gain-of-function variants.
bioRxiv · Sep 7, 2024 · PreprintGenetics