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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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Case report: A novel heterozygous synonymous variant in deep exon region of NIPBL gene generating a non-canonical splice donor in a patient with cornelia de lange syndrome by Meizhen Shi, Meizhen Shi, Yuying Liang, Bobo Xie, Bobo Xie, Xianda Wei, Xianda Wei, Haiyang Zheng, Haiyang Zheng, Chunrong Gui, Chunrong Gui, Rong Huang, Rong Huang, Xin Fan, Xin Fan, Chuan Li, Chuan Li, Xiaojiao Wei, Yunting Ma, Shaoke Chen, Shaoke Chen, Yujun Chen, Yujun Chen, Baoheng Gui, Baoheng Gui
Published 2022-11-01
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