Varaico: Literature-Extracted Genetic Variants

Gene:EPOR
Variant:p.A411T
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EPOR

NM_000121.4:p.A411T

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

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."