Rosato BE, Marra R, Del Giudice F, Nostroso A, et al. One gene, two opposite phenotypes: a case report of hereditary anemia due to a
loss-offunction variant in the EPAS1 gene. Haematologica 2023 Apr 27. doi: 10.3324/haematol.2022.282457.
PMID: 37102609