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. 2019 Nov 14;11:69. doi: 10.1186/s13073-019-0685-z

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© The Author(s). 2019

Open AccessThis 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. 5 — Locations of rare, predicted deleterious variants in KLK1 (a) and GGCX (b) across the PAH Biobank cohort (n = 2572 cases). Locations are provided within the two-dimensional protein structures. The numbers of variants at each amino acid position are indicated along the y-axes. The vertical gray lines indicate exon borders. D-MIS, predicted damaging missense; LGD, likely gene disrupting (stop-gain, frameshift, splicing)