https://www.selleckchem.com/products/PI-103.html
Splicing minigene reporter assay revealed that c.1326AC causes exon 11 or exon 11 and 12 skipping during NIS pre-mRNA splicing leading to the NIS pathogenic variants p.G415_P443del and p.G415L *32, respectively. Significantly, the frameshift variant p.G415L *32 is predicted to be subjected to degradation by nonsense-mediated decay. We identified the first exonic synonymous gene variant causing aberrant NIS pre-mRNA splicing, thus expanding the mutational landscape of the gene leading to dyshormonogenic congenital hypothyroidism. We i
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