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One gene, two opposite phenotypes: a case report of hereditary anemia due to a loss-of-function variant in the EPAS1 gene.

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

Haematologica（2023）

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