Figure/Table detail

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

样本 VPS13B基因表达量 相对表达量(%) P*
正常对照 1.01±0.16 100 -
父亲 0.67±0.08 66.24 <0.001
母亲 0.92±0.07 90.80 0.517
患儿 0.45±0.12 44.75 <0.001
表1 患儿及父母VPS13B基因反转录PCR检测结果
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