Varaico: Literature-Extracted Genetic Variants

Gene:EPO
Variant:p.E5Splc
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EPO

NM_000799.4:p.E5Splc

Associated Papers

Characterization of a Newly Discovered Non-Coding Variant in the EPO Gene Identified in Two Unrelated Italian Pedigrees With Erythrocytosis.

Mora B et al.

American Journal of Hematology, 2026

Identification of Hepatic-like EPO as a Cause of Polycythemia.

Martin L et al.

The New England Journal of Medicine, 2025

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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."