Varaico: Literature-Extracted Genetic Variants

Gene:EPOR
Variant:p.E417*
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EPOR

NM_000121.4:p.E417*

Associated Papers

Erythroblastic Sarcoma in Adults and Children: Different Pathways to the Same Destination.

Fitzpatrick MJ et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025

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

Lo Riso L et al.

Genes, 2022

Genetic basis of congenital erythrocytosis: mutation update and online databases.

Bento C et al.

Human Mutation, 2014

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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."