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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3 VPS13B基因变异位点c.6940+1G>T剪接验证 A：反转录PCR产物电泳结果；B：c.6940+1G>T位点剪接示意图，方形及数字代表对应外显子，黑线表示内含子，黑虚线表示缺失，“V”型折线代表外显子在成熟mRNA中的连接方式。
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