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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

Detalles Bibliográficos
Autores principales:	Rosato, Barbara Eleni, Marra, Roberta, Del Giudice, Federica, Nostroso, Antonella, Gobbi, Simona, Bruschi, Barbara, Coccia, Paola, Monaco, Vittoria, Monti, Maria, Iolascon, Achille, Andolfo, Immacolata, Russo, Roberta
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Fondazione Ferrata Storti 2023
Materias:	Case Report & Case Series
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10543174/ https://www.ncbi.nlm.nih.gov/pubmed/37102609 http://dx.doi.org/10.3324/haematol.2022.282457

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