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. 2016 Apr 1;7:23. doi: 10.1186/s13229-016-0087-7

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© Yin et al. 2016

Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. 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 — Detection of CNVs at the PARK2 locus by genomic qPCR. a SYBR-based qPCR assays were performed to validate exonic CNVs at the PARK2 locus in the cases and the family members. Data is presented as mean ± SD. b Additional two ASD cases with CNV at exon 3 of the PARK2 locus were detected. c Copy number changes of five exons (exons 1 to 5) of the PARK2 gene were measured to determine the spanning of the CNV region in cases U2650 and U2890. EX exon. Data is presented as mean ± SD. d Pedigrees of probands with PARK2 exonic CNVs. Arrows indicate the proband in each family. N/A genomic DNA was not available, del deletion, dup duplication. Exons involved are determined by genomic qPCR