“…In particular, a missplicing of TG pre-mRNA due to a mutation in consensus donor or acceptor ss is known to induce a congenital goiter and hypothyroidism in humans. Exon skipping in the human TG gene can be caused by nucleotide Alzahrani et al, 2006;Bruellman et al, 2020b;Chen et al, 2018;Citterio et al, 2015, de Filippis et al, 2017Fu et al, 2016a, Gutnisky et al, 2004Hermanns et al, 2013Hu et al, 2016, Ieiri et al 1991Makretskaya et al, 2018;Medeiros-Neto et al, 1996;Narumi et al, 2011;Nicholas et al, 2016;Niu et al, 2009;Pardo et al, 2008Pardo et al, , 2009Peteiro-Gonzalez et al, 2010;Rubio et al, 2008;Targovnik et al, 1995Targovnik et al, , 2001Targovnik et al, , 2012Watanabe et al, 2019;Zou et al, 2018]. The usefulness of splicing reporter minigene assays has been shown to be a good approach to determine the effect of the variants on the splicing process [Bonnet et al, 2008;Tournier et al, 2008] when is difficult to obtain RNA from patients' tissues.…”