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. 2015 Jun 13;16:38. doi: 10.1186/s12881-015-0182-1

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© Norgett et al. 2015

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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Fig. 2 — Characterization and gene dosage of the genomic deletion at 2p13.3 (a) Successful PCR amplification across the junction breakpoint in the patient (P) and his parents (F, M) but not in a control individual with normal genomic DNA (C). b Sequencing revealed the insertion of 2 nucleotides (GG) at the site of the deletion. c Semi-quantitative PCR confirmed that gene dosage of ATP6V1B1 and exons 2 and 3 of VAX2 is reduced in the parents (F, M) compared to the control (C)