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Automated sequence chromatograms showing RAI1 variants in patients. Triplet codon (underlined) and translated amino acids are shown. The two RAI1 gene heterozygous variations, (a) a c.3650G>A (p.R1217Q) in patient SAG4739 and (b) a c.4166A>G (p.Q1389R) in patient SAG6888 are shown. (c) Alignment of selected region of human RAI1 showing residues (in bold types) altered in patients that are conserved in other mammals.
