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. 2020 Oct 7;6(6):e521. doi: 10.1212/NXG.0000000000000521

Figure 2. POLR3A transcript visualization and sequencing from patient and control fibroblasts.

Figure 2

(A) Agarose gel electrophoresis performed from cDNA extracted and amplified by PCR from control and proband (II-1) fibroblasts. (B) Sequencing of the POLR3A gene from wild-type (WT) and proband fibroblast demonstrating the deletion of exon 14 (e14del) and exons 13 + 14 (e13 + 14del).