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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Hlavní autoři:	Lixian Zhang, Jianlong Zhuang, Nan Huang, Wanyu Fu, Chunnuan Chen
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Springer 2026-04-01
Edice:	Annals of Hematology
Témata:	Thalassemia Hb variants Third-generation sequencing Sanger sequencing Molecular diagnosis
On-line přístup:	https://doi.org/10.1007/s00277-026-06997-z
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