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Trio clinical exome sequencing. (A) A screen shot taken from the Genoox platform, showing the detection and annotation of de novo c.188C>T (p.Pro63Leu) mutation in the MAFB gene. (B) IGV genome browser screenshot of reads obtained by NGS. Detection of the c.188C>T (p.Pro63Leu) in the MAFB gene in the proband (upper panel), and its absence in the father, and mother (middle and lower panel).
