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Identification of the large deletion. a Detected heterozygous deletions in exons of TSGA10 in the proband and his parents with qPCR. b The DNA fragment containing the breakpoint was amplified with PCR using the special primers, shown in the Table 1, designed based on the WGS. c The sequencing result of the DNA fragment above shows an 984,394 bp deletion spanning the eleven genes, contained the entire TSGA10 gene
