Varaico: Literature-Extracted Genetic Variants

Gene:EPO
Variant:p.P7fs
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EPO

NM_000799.4:p.P7fs

Associated Papers

Congenital erythrocytosis.

Mallik N et al.

European Journal of Haematology, 2021

Germline genetic factors in the pathogenesis of myeloproliferative neoplasms.

Bellanné-Chantelot C et al.

Blood Reviews, 2020

Genetic variants of erythropoietin (EPO) and EPO receptor genes in familial erythrocytosis.

Vočanec D et al.

International Journal of Laboratory Hematology, 2019

Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.

Camps C et al.

Haematologica, 2016

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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."