Furthermore, this tool has been used to successfully assay variants at other disease genes, such as UGT1A1 (Crigler–Najjar syndrome) [51], CHD7 (Charge syndrome) [52], or TRPM4 (colorectal cancer) [53], among others (http://www.ibgm.med.uva.es/servicios/servicio-de-splicing-minigenes/, accessed on 13 July 2022). The gene discussed is UGT1A1; the disease is CHARGE syndrome.