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The c.1808A>T (p.D603V) variant does not impact splicing of exon 12. Ethidium stained agarose gels of the cDNA PCR products from the WT H1 and indicated variant cell lines. For each, exons depicted as grey boxes represent the exon carrying the genomic variant being tested. →, indicates location of the primers used for PCR amplification of the cDNA for each cell line. *, indicates primer dimers.
