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A. Schematic representation of the POLA1 gene and the mutations implicated in VEODS and XLPDR syndromes. B. Model depicting the effect of the XLPDR mutation on POLA1 mRNA splicing. The mutation in intron 13 introduces a splice donor site (red star) resulting in the introduction of an aberrant exon (13a, red arrow), leading to frameshift and early termination.
