Varaico: Literature-Extracted Genetic Variants

Gene:EPAS1
Variant:p.G537A
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EPAS1

NM_001430.5:p.G537A

Associated Papers

Congenital erythrocytosis associated with gain-of-function HIF2A gene mutations and erythropoietin levels in the normal range.

Perrotta S et al.

Haematologica, 2013

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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."