Varaico: Literature-Extracted Genetic Variants

Gene:EPOR
Variant:p.S407*
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EPOR

NM_000121.4:p.S407*

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

Low incidence of EPOR mutations in idiopathic erythrocytosis.

Filser M et al.

Haematologica, 2021

Discrepancy in the degree of polycythemia in a family with a novel nonsense EPOR mutation.

Ratarat C et al.

International Journal of Hematology, 2019

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

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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."