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. 2023 Jan 10;10:1059680. doi: 10.3389/fcell.2022.1059680

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Copyright © 2023 Tong, Zhang, Chen, Zhu, Lu, Zhang, Chen, Yan, Zheng, Zhao, Zhou, Yang, Yang, Cang, Jiang and Shu.

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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Summary of 38 variants of MAT1A identified in MATD patients and carriers. (A) Distribution of 38 variants in the MAT1A gene and protein among MATD patients and carriers. Black, 24 novel variants found in this study; grey, reported variants in MATD elsewhere. (B) Conservation analysis of 24 novel variants in different species, excluding the splicing c.292 + 5G>A.