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. 2014 Jan 27;5:5. doi: 10.1186/2040-2392-5-5

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Copyright © 2014 Matsunami et al.; licensee BioMed Central Ltd.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. 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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Segregation of KLHL6, SPATA5L1, and ITPK1 variants. Two-generation pedigree (pedigree 3), with five affected male siblings. Sequence variants identified in the family are shown in the black boxes. Pedigree symbols are described in the legend for Figure 2. Variants with no odds ratio were observed only in high-risk families. All family members were tested for all variants.