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Report of Two Novel Thalassemia Variants, HBB: c.181delG and HBA1: c.121_126delAAGACC, in Chinese Individuals

Chen, XP; Lin, ZL; Hu, JJ; Chen, SP; Wen, S; Wu, AZ; Wu, H; Huang, JL; Wang, HQ; Sun, J; Peng, ZY; Sun, Y; Fu, SM

Fu, SM (corresponding author), Hainan Med Coll, Hainan Hosp, Hainan Gen Hosp, Cent Lab,Hainan Prov Key Lab Cell & Mol Genet Tra, 19 Xiuhua Rd, Haikou 570311, Hainan, Peoples R China.; Sun, Y (corresponding author), BGI Shenzhen, BGI Genom, 21 Hongan 3rd St, Shenzhen 518083, Guangdong, Peoples R China.

HEMOGLOBIN, ; ():

Abstract

In this study, we report two novel thalassemia variants detected in Chinese individuals using targeted NGS technology. We detected a novel frameshift ......

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