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SERAC1 homozygous splice site mutation detected in patient 2 using WES. Sanger sequence trace of 5' donor splice site of codon 13 is shown. Patient 2 is homozygous for a base change (G>C, red arrow) in SERAC1, resulting in homozygous splice site mutation: IVS13+1G>C (c.1403+1G>C).
