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Identification of rare β-globin gene variants using third-generation sequencing (TGS). (A, B): Identification of the rare δβ-thalassemia of SEA-HPFH and Chinese Gγ+(Aγδβ)0 by TGS. (C, D): Identification of the rare Filipino (~ 45 kb deletion) and rare CD15(TGG > TAG) (HBB: c.47G > A) by TGS. E: Detection of the rare CD54-58 (-TATGGGCAACCCT) mutation in HBB gene by TGS. F: Identification of the rare variant of IVS-II-761 (HBB: c.316–90 A > G) by TGS.
