Varaico: Literature-Extracted Genetic Variants

Gene:EPOR
Variant:p.Q434*
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EPOR

NM_000121.4:p.Q434*

Associated Papers

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

Lo Riso L et al.

Genes, 2022

A case of primary familial congenital polycythemia with a novel EPOR mutation: possible spontaneous remission/alleviation by menstrual bleeding.

Toriumi N et al.

International Journal of Hematology, 2018

RUNX1 and NF-E2 upregulation is not specific for MPNs, but is seen in polycythemic disorders with augmented HIF signaling.

Kapralova K et al.

Blood, 2014

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."