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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Targeted next-generation sequencing identification of mutations in patients with disorders of sex development

Fig. 2

46,XX SRY-positive was identified in DSD08 in this assay. a The entire SRY gene was covered with a depth of more than 100× in the 46,XX sample through targeted NGS testing. b NGS results were confirmed by PCR assay. Two primers were designed for this test, one covered the whole SRY gene with a product of 735 bp, while the other covered the first 200 bp with a product of 257 bp. Lanes 1 and 2: subjects; lanes 3 and 4: SRY-normal samples; lanes 5 and 6: SRY-negative samples

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