Molecular characterization of similar Hb Lepore Boston-Washington in four Chinese families using third generation sequencing by Jianlong Zhuang, Na Zhang, Yu Zheng, Yuying Jiang, Yu’e Chen, Aiping Mao, Chunnuan Chen

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An unusual case of thalassemia intermedia with inheritable complex repeats detected by single-molecule optical mapping by Qianqian Zhang, Peng Lin, Aiping Mao, Yongqiong Liu, Xuan Shang, Xiaofeng Wei, Yuezhen Li, Bin Lin, Xiangmin Xu

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Long-read sequencing enables comprehensive molecular genetic diagnosis of Fabry disease by Fengxia Yao, Na Hao, Danhua Li, Weimin Zhang, Jingwen Zhou, Zhengqing Qiu, Aiping Mao, Wanli Meng, Juntao Liu

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High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands by Yunpeng Wang, Gaohui Zhu, Danhua Li, Yu Pan, Rong Li, Ting Zhou, Aiping Mao, Libao Chen, Jing Zhu, Min Zhu

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Case report: Long-read sequencing identified a novel 14.9-kb deletion of the α-globin gene locus in a family with α-thalassemia in China by Yan Yuan, Xia Zhou, Jing Deng, Qun Zhu, Zanping Peng, Liya Chen, Ya Zou, Aiping Mao, Wanli Meng, Minhui Ma, Hongliang Wu

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Application of third-generation sequencing for genetic testing of thalassemia in Guizhou Province, Southwest China by Jiangfen Wu, Dan Xie, Lei Wang, Ying Kuang, Shulin Luo, Lingyan Ren, Di Li, Aiping Mao, Jiaqi Li, Libao Chen, Bangquan An, Shengwen Huang

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Analysis of rare thalassemia genetic variants based on third-generation sequencing by Cuiting Peng, Haixia Zhang, Jun Ren, Han Chen, Ze Du, Tong Zhao, Aiping Mao, Ruofan Xu, Yulin Lu, He Wang, Xinlian Chen, Shanling Liu

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Haplotype‐Resolved Genotyping and Association Analysis of 1,020 β‐Thalassemia Patients by Targeted Long‐Read Sequencing by Yuhua Ye, Chao Niu, Aiping Mao, Lang Qin, Jiahan Zhan, Weijie Chen, Zhentian Liu, Tiantian Xie, Qianqian Zhang, Jiaqi Li, Li Huang, Wanli Meng, Yumeng Liu, Liuhua Liao, Junqin Cai, Riyang Liu, Xinhua Zhang, Lihong Zeng, Yaoyun Li, Bin Lin, Kui Li, Xiaoyun Hua, Binbin Huang, Honggui Qin, Yueyan Huang, Zhijing Huang, Jinquan Lao, Xiang Qu, Juanjuan Chen, Xiaoqin Feng, Qiujun Liu, Wanying Lin, Xiaoman Zhou, Yidan Liang, Xingjiang Long, Jiaofeng Qin, Lixiang Yan, Weijian Zhu, Lian Yu, Chengwu Fan, Deguo Tang, Tianyu Zhong, Jufang Tan, Zhilin Ren, Xiangmin Xu

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