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(A) Schematic representation of the wild type (wt-Tr) and the aberrant transcript (a-Tr1) generated by variant NC_000009.11: g.130444840 G>A, (NM003165.3), c.1702 + 1G>A of patient 5, resulting in the deletion of the last 117 bp of exon 18. (B) cDNA electropherogram showing the wt transcript (black and green letters) and the aberrant transcript (black and purple letters) produced through the choice of a new donor site within exon 18 at position c.1585 (arrowed).
