Varaico: Literature-Extracted Genetic Variants

Gene:EPOR
Variant:p.S432fs
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EPOR

NM_000121.4:p.S432fs

Associated Papers

JAK2 Unmutated Erythrocytosis: 2026 Update on Diagnosis and Management.

Gangat N et al.

American Journal of Hematology, 2025

Identification of Two Novel EPOR Gene Variants in Primary Familial Polycythemia: Case Report and Literature Review.

Lo Riso L et al.

Genes, 2022

Low incidence of EPOR mutations in idiopathic erythrocytosis.

Filser M et al.

Haematologica, 2021

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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."