Varaico: Literature-Extracted Genetic Variants

Gene:EPAS1
Variant:p.A553fs
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EPAS1

NM_001430.5:p.A553fs

Associated Papers

Identification of EPOR and JAK2 double heterozygous variants in twin cases with familial erythrocytosis.

Li W et al.

Science China. Life Sciences, 2025

Mutational Landscape of Patients Referred for Elevated Hemoglobin Level.

Bhai P et al.

Current Oncology (toronto, Ont.), 2022

36290845 (PubMed )
Supplement: curroncol-29-00568-s001.zip › Supplementary_File_II-layout.pdf

Novel mutations in the EPO-R, VHL and EPAS1 genes in the Congenital Erythrocytosis patients.

Chandrasekhar C et al.

Blood Cells, Molecules & Diseases, 2020

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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."