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. 2022 Jun 15;9:915649. doi: 10.3389/fmed.2022.915649

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Copyright © 2022 Dai, Li, Huang, Sun, Liu, Li, Chen, Wang, Wu, Chen, Xiao, Wei, Li, Peng, Yu, Wang and Wang.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Distribution of rare variants in ALPK3. Structural and functional domains of ALPK3 protein showing variant sites identified in study cohort (red), validation cohort (pink), and gnomAD controls (blue). (A) Distribution of rare truncating variants (frameshift and stop-gained). Another two splice site variants, respectively, observed in one HCM case (NM_020778.5: c.4410 + 1G > C) of the validation cohort and one control (NM_020778.5: c.4773-1G > C) were not displayed. (B) Distribution of rare missense variants.