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First clinical and molecular characterization of two rare complex β-globin variants in Chinese population using third generation sequencing

Abstract Background With the widespread application of third-generation sequencing (TGS) technology, an increasing number of rare or previously unreported β-globin gene variants have been discovered. This study aims to characterize two rare complex β-globin gene variants identified in the Chinese po...

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Principais autores: Lixian Zhang, Jianlong Zhuang, Nan Huang, Wanyu Fu, Chunnuan Chen
Format: Artigo
Sprog:Inglês
Udgivet: Springer 2026-04-01
Serier:Annals of Hematology
Fag:
Thalassemia
Hb variants
Third-generation sequencing
Sanger sequencing
Molecular diagnosis
Online adgang:https://doi.org/10.1007/s00277-026-06997-z
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