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. 2019 Feb 14;20:80. doi: 10.1186/s12891-019-2420-8

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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. 4 — Frequency of ALPL pathogenic variants. Pathogenic variants were categorized using the definitions from Sequence Ontology [40]. Figure reports the percentages of the total number of pathogenic variants reported (n = 218). ^aOther includes structural variant (n = 2), synonymous variant (n = 2), and missense variant/splice region variant (n = 1)