Varaico: Literature-Extracted Genetic Variants

Gene:EPOR
Variant:p.S412*
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EPOR

NM_000121.4:p.S412*

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

Polycythaemia-inducing mutations in the erythropoietin receptor (EPOR): mechanism and function as elucidated by epidermal growth factor receptor-EPOR chimeras.

Gross M et al.

British Journal of Haematology, 2014

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

Bento C et al.

Human Mutation, 2014

Primary familial congenital erythrocytosis: two novel EPOR mutations found in Spain.

Bento C et al.

International Journal of Laboratory Hematology, 2013

Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?).

Bento C et al.

European Journal of Haematology, 2013

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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."