Varaico: Literature-Extracted Genetic Variants

Gene:EPAS1
Variant:p.A530S
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EPAS1

NM_001430.5:p.A530S

Associated Papers

JAK2 Unmutated Erythrocytosis: 2026 Update on Diagnosis and Management.

Gangat N et al.

American Journal of Hematology, 2025

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

Karaghiannis V et al.

Haematologica, 2023

JAK2 unmutated erythrocytosis: 2023 Update on diagnosis and management.

Gangat N et al.

American Journal of Hematology, 2023

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."