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. 2018 Jan 31;8:1943. doi: 10.1038/s41598-018-20281-9

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© The Author(s) 2018

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as 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 images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Segregation analysis of the p.Arg50Gln mutation of APOB in family HC706: (A) Lipid levels are given when available in mg/dL with the age of the patients at clinical measurement. The −/− indicates absence of the mutation while +/− indicates heterozygous carriers. The asterisk shows the patients studied by exome sequencing. (B) The arginine at position 50 of APOB is a conserved amino acid between different species. (C) This mutation is predicted to be probably damaging by Polyphen, tolerated by Sift, and disease causing by mutation taster when studied in-silico.