低深度全基因组测序拷贝数变异检测技术对缺失型X连锁鱼鳞病的检测效力及意义的分析研究
白周现 陈晨 苏利沙 徐慧 王聪慧 时盼来 孔祥东
Application of low-depth whole-genome sequencing for copy number variations in genetic diagnosis of X-linked ichthyosis due to STS gene deletion
Bai Zhouxian, Chen Chen, Su Lisha, Xu Hui, Wang Conghui, Shi Panlai, Kong Xiangdong
中华皮肤科杂志
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2019, (10): 736
-742
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DOI: 10.35541/cjd.20190197
