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    Detection of inversion with breakpoints in ARSB causing MPS VI by whole-genome sequencing: lessons learned and best practices

    Detection of inversion with breakpoints in ARSB causing MPS VI by whole-genome sequencing: lessons learned and best practices by Yufeng Huang, Wenyue Deng, Hui Huang, Xiankai Zhang, Xiaohong Chen, Jian Ye, Sukun Luo, Ting Yu, Hui Yao, Hao Du, Xuelian He

    Published 2025-01-01
    Subjects: “…mucopolysaccharidosis type VI…”
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