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Cohen syndrome in a child caused by compound heterozygous variants in VPS13B gene
Xin MEI, Xiao-Liang HE, Wei-Na GAO, Meng-Yao WANG, Jing-Wen SHEN, Jing WEI, Yun XUE
Chinese Journal of Contemporary Pediatrics, 2025, 27(6): 740-745.   DOI: 10.7499/j.issn.1008-8830.2412119

图4 VPS13B蛋白变异前后结构预测图 绿色部分为变异位点之前蛋白结构，黄色部分为变异位点之后蛋白结构；变异后VPS13B蛋白在黄绿色交界处截断；黑色矩形框显示变异位点，黑色虚线指示局部放大的蛋白结构。
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