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Reverse sequence chromatograms showing Sanger sequencing results. The missense variant c.920G>A (p.Gly307Glu), located in exon 8, was inherited from the mother and the splicing variant, c.733+1G>A, located in intron 6, was inherited from the father. The patient and affected brother harbored both variants in FOXRED1 in a compound heterozygous condition.
