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排名必读论文期刊顶会热点AI 简史溯源树小脉星探人才迁徙塔尖人才国防情报追踪开源工具智慧手语
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One gene, two opposite phenotypes: a case report of hereditary anemia due to a loss-offunction variant in the <i>EPAS1</i> gene

Barbara Eleni Rosato,Roberta Marra,Federica Del Giudice, Antonella Nostroso, Simona Gobbi,Barbara Bruschi,Paola Coccia,Vittoria Monaco,Maria Chiara Monti,Achille Iolascon,Immacolata Andolfo,Roberta Russo

Haematologica（2023）

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hereditary anemia,opposite phenotypes,gene,loss-offunction
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