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Third‐generation sequencing identified two rare α‐chain variants leading to hemoglobin variants in Chinese population

Rare and novel variants of HBA1/2 and HBB genes resulting in thalassemia and hemoglobin (Hb) variants have been increasingly identified. Our goal was to identify two rare Hb variants in… Click to show full abstract

Rare and novel variants of HBA1/2 and HBB genes resulting in thalassemia and hemoglobin (Hb) variants have been increasingly identified. Our goal was to identify two rare Hb variants in Chinese population using third‐generation sequencing (TGS) technology.

Keywords: generation sequencing; hemoglobin variants; variants chinese; third generation; two rare; chinese population

Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2024

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