Varaico: Literature-Extracted Genetic Variants

Gene:EPAS1
Variant:p.A530P
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EPAS1

NM_001430.5:p.A530P

Associated Papers

HIF-2α-pVHL complex reveals broad genotype-phenotype correlations in HIF-2α-driven disease.

Tarade D et al.

Nature Communications, 2018

EPAS1 Mutations and Paragangliomas in Cyanotic Congenital Heart Disease.

Vaidya A et al.

The New England Journal of Medicine, 2018

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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."