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A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome
Jorieke E H Bergman, Nicole Janssen, Almer M van der Sloot, Hermien E K de Walle, Jeroen Schoots, Nanna D Rendtorff, Lisbeth Tranebjaerg, Lies H Hoefsloot, Conny M A van Ravenswaaij-Arts, Robert M W Hofstra