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Brief Report

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]
View further author information
&
Rui Zhanga Department of Medical Genetics and Prenatal Diagnosis, Baoan Women’s and Children’s Hospital, Jinan University, Shenzhen, ChinaCorrespondence[email protected]
View further author information
 show all
Received 26 Oct 2023, Accepted 08 Mar 2024, Published online: 01 May 2024

References

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