Varaico: Literature-Extracted Genetic Variants

Gene:EPOR
Variant:p.S412delFs
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EPOR

NM_000121.4:p.S412delFs

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

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

Bento C et al.

Human Mutation, 2014

A novel mutation of the erythropoietin receptor gene associated with primary familial and congenital polycythaemia.

O'Rourke K et al.

International Journal of Hematology, 2011

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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."