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. 2015 Nov 5;2:15040. doi: 10.1038/hgv.2015.40

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Copyright © 2015 The Japan Society of Human Genetics

This work is licensed under a Creative Commons Attribution 4.0 International 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/4.0/

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Potentially causative variants detected in RASA1 and GDF2 in samples suspected to have hereditary hemorrhagic telangiectasia (HHT). (a) Heterozygous mutations in RASA1 and GDF2 detected by NGS assay and (b) Sanger confirmed.