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Novel non-synonymous coding MPL-gene variants in two unrelated infants with congenital amegakaryocytic thrombocytopenia

GTH Congress 2024 – 68th Annual Meeting of the Society of Thrombosis and Haemostasis Research – Building Bridges in Coagulation Pub Date : 2024-02-01 DOI:10.1055/s-0044-1779153
D. Boeckelmann, A. Yoshimi-Nöllke, B. Strahm, H. Georgiev, K. Reinsberger, M. Erlacher, B. Zieger
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两名患有先天性巨幼红细胞血小板减少症的非亲属关系婴儿体内的新型非同义编码 MPL 基因变体
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GTH Congress 2024 – 68th Annual Meeting of the Society of Thrombosis and Haemostasis Research – Building Bridges in Coagulation
GTH Congress 2024 – 68th Annual Meeting of the Society of Thrombosis and Haemostasis Research – Building Bridges in Coagulation
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