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. 2019 Oct 12;6:14. doi: 10.1186/s40673-019-0108-3

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© The Author(s). 2019

Open Access This 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. 1 — Family Pedigree. Pedigree of the family presented in this report. Proband is indicated by an arrow. Shaded symbols represent affected individuals. A dot indicates germline mosaicism. Genotypes of the c.800 position in ITPR1 are shown under each patient sequenced. C is reference and T is p.Thr267Met variant