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First Familial Cases of Type 2 Congenital Erythrocytosis (ECYT2) with a Chuvash Pathogenic Variant in VHL Gene in Poland: Example of the Clinical Utility of Next-Generation Sequencing in Diagnostics of Orphan Diseases

Monika Pepek,Wioletta Bal,Monika Radwanska,Marcin M. Machnicki,Malgorzata Kurkowiak,Malgorzata Rydzanicz,Agnieszka Pollak,Piotr Stawinski,Rafal Ploski,Radoslaw Chaber,Tomasz Stoklosa

Acta Haematologica Polonica（2020）

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