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. 2014 Nov 13;1:14022. doi: 10.1038/hgv.2014.22

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Copyright © 2014 The Japan Society of Human Genetics

This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 3.0 Unported License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/3.0/

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Electropherogram of the PTCH1 exon 3 sequence showing the heterozygous germline duplication of a thymine (T) in the patient DNA. The DNA and corresponding amino-acid sequences of wild-type and mutant PTCH1 alleles are also shown. The affected transcript and protein were labeled NM_000264.3 (PTCH1_v001):c.426dup and NM_000264.3 (PTCH1_i001):p.(Thr143Tyrfs*12), respectively, using the Human Genome Variation Society (HGVS) nomenclature version 2.0 (Mutalyzer 2.0.beta-32, https://mutalyzer.nl/). The arrow indicates the duplication point.