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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication

Fig. 2

Sanger sequencing of RT-PCR products of proband and control, using primers covering exons 9–12 and 26–29 of VPS13B. a The variant of c.1426-1G > A disrupted the following sequences and caused frameshift in the proband. The orange arrow shows the first bp of exon 11 in the normal control. b The variant of 4157 + 1G > T disrupted following sequences, and caused frameshift in the proband. The orange arrow shows the first bp of exon 27 in the normal control

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BMC Medical Genetics

ISSN: 1471-2350

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