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  1. 1
    Importance of comprehensive genetic testing for patients with suspected vascular Ehlers–Danlos syndrome: a family case report and literature review

    Importance of comprehensive genetic testing for patients with suspected vascular Ehlers–Danlos syndrome: a family case report and literature review by Xianda Wei, Xianda Wei, Xu Zhou, BoBo Xie, BoBo Xie, Meizhen Shi, Meizhen Shi, Chunrong Gui, Chunrong Gui, Bo Liu, Caiyan Li, Chi Zhang, Jiefeng Luo, Cundong Mi, Baoheng Gui, Baoheng Gui

    Published 2023-12-01
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    Article
  2. 2
    Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene‐disease relationship

    Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gen... by Weiliang Lu, Mingxing Liang, Jiasun Su, Jin Wang, Lingxiao Li, Shujie Zhang, Zailong Qin, Limei Huang, Yingchi Lu, Shang Yi, Sheng Yi, BoBo Xie, Haiyang Zheng, Jingsi Luo, Xiaoyan Gao, Yiping Shen

    Published 2020-05-01
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    Article

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