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Indirect proof of principle on c.1213+5G>T [IVS6+5G>T] pathogenicity. Electropherograms highlighting the rs1065757 polymorphism (G>A) in the proband’s father (Pf) gDNA (heterozygous; (a)) and cDNA (homozygous A; (b)). The discrepant pattern observed for the exonic polymorphism (rs1065757, c.1072G>A) provides indirect proof of an active nonsense-mediated mRNA decay (NMD) mechanism causing the degradation of the allele harboring the splicing mutation.
