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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EPAS1

Variant:p.E527K

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EPAS1

NM_001430.5:p.E527K

hg38:chr2:46380251 G>A

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

36700397 (PubMed )

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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."