Journal of Genetic Medicine : eISSN 2383-8442 / pISSN 1226-1769

Fig. 2.

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Fig. 2. Genomic analysis of KAT6B. DNA sequence showed a heterozygous mutation of c.5206C>T (p.Gln1736Ter) in exon 18 (A), partial electrophenograms after Sanger sequencing results of the patient, his father and mother (B), and representative diagram of KAT6B gene (C); exon, functional region, and genotype-phenotype correlations based on Vlckova M et al. [11] and Radvanszky J et al. [15].
Journal of Genetic Medicine 2021;18:147-51
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