A Novel 165 Kb Duplication Involving the α-Globin Gene Cluster Is Identified by Low-Pass Whole Genome Sequencing in a Chinese Thalassemia Intermedia Patient

Xiaohong Hea Department of Medical Genetics and Prenatal Diagnosis, Baoan Women’s and Children’s Hospital, Jinan University, Shenzhen, ChinaView further author information

Peirun Tianb BGI-Shenzhen, Shenzhen, ChinaView further author information

Lijuan Zhonga Department of Medical Genetics and Prenatal Diagnosis, Baoan Women’s and Children’s Hospital, Jinan University, Shenzhen, ChinaView further author information

Shanshan Penga Department of Medical Genetics and Prenatal Diagnosis, Baoan Women’s and Children’s Hospital, Jinan University, Shenzhen, ChinaView further author information

Shiping Chenb BGI-Shenzhen, Shenzhen, ChinaView further author information

Lei Pana Department of Medical Genetics and Prenatal Diagnosis, Baoan Women’s and Children’s Hospital, Jinan University, Shenzhen, ChinaView further author information

Yutao Dub BGI-Shenzhen, Shenzhen, China;c Hebei Medical University, Shijiazhuang, ChinaCorrespondence[email protected]
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Rui Zhanga Department of Medical Genetics and Prenatal Diagnosis, Baoan Women’s and Children’s Hospital, Jinan University, Shenzhen, ChinaCorrespondence[email protected]
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A Novel 165 Kb Duplication Involving the α-Globin Gene Cluster Is Identified by Low-Pass Whole Genome Sequencing in a Chinese Thalassemia Intermedia Patient

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A Novel 165 Kb Duplication Involving the α-Globin Gene Cluster Is Identified by Low-Pass Whole Genome Sequencing in a Chinese Thalassemia Intermedia Patient

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