Varaico: Literature-Extracted Genetic Variants

Gene:EPAS1
Variant:p.D525H
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EPAS1

NM_001430.5:p.D525H

Associated Papers

Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis.

Karaghiannis V et al.

Haematologica, 2023

Genetic variability of hypoxia-inducible factor alpha (HIFA) genes in familial erythrocytosis: Analysis of the literature and genome databases.

Kristan A et al.

European Journal of Haematology, 2019

A new exon 12 mutation in the EPAS1 gene possibly associated with erythrocytosis.

Schelker RC et al.

European Journal of Haematology, 2019

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