Varaico: Literature-Extracted Genetic Variants

Gene:EPOR
Variant:p.C338Y
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EPOR

NM_000121.4:p.C338Y

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

Two novel missense mutations in EPOR gene causes erythrocytosis in two unrelated patients.

Peroni E et al.

British Journal of Haematology, 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."