Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis
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DOI: 10.3324/haematol.2022.281698
Abstract: Gain-of-function mutations in the EPAS1/HIF2A gene have been identified in patients with hereditary erythrocytosis that can be associated with the development of paraganglioma, pheochromocytoma and somatostatinoma. In the present study, we describe a unique European… read more here.
Keywords: patients erythrocytosis; genetic variants; erythrocytosis; identified patients ... See more keywords