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. 2024 Nov 18;14:28391. doi: 10.1038/s41598-024-78105-y

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© The Author(s) 2024

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 1 — Family pedigrees and genetic variants in affected maple syrup urine disease (MSUD) patients. (A) Family pedigrees of all recruited children. (B) Detected genetic variants in BCKDHA, BCKDHB and DBT genes. All detected variants fully segregated in all tested family members (homozygous in the MSUD patients and heterozygous in their parents) consistent with the autosomal recessive inheritance nature of the disease. NM_number represents each gene transcript. H homozygous, h heterozygous, A adenine, C cytosine, G guanine, T thymine.