ACMG/AMP-Based Variant Classification of a Novel HBA2 Variant (HBA2: C.297del, Hb Taiping) in Compound Heterozygosity With Hb Adana (HBA2:C.179G>A) Causing Non-Deletional Hb H Disease
基于ACMG/AMP的变异分类,对一种新型HBA2变异(HBA2: C.297del,Hb Taiping)与Hb Adana(HBA2: C.179G>A)复合杂合,导致非缺失型Hb H病。
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doi:10.1111/ijlh.70037
Yasin, Norafiza Mohd; Somasundram, Suguna; Hassan, Syahzuwan; Aziz, Nur Aisyah; Hamid, Faidatul Syazlin Abdul; Zulkefli, Ezzanie Suffya; Mohamad, Nor Nazuha; Lee, Chin Ming; Darawi, Mohd Nazif; Papasavva, Thessalia; Stephanou, Coralea; Kountouris, Petros; Arkesteijn, Sandra J G; Koopman, Tamara; Harteveld, Cornelis L