Varaico: Literature-Extracted Genetic Variants

Gene:EPX
Variant:p.L7delFs
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EPX

NM_000502.6:p.L7delFs

Associated Papers

Germline genetic factors in the pathogenesis of myeloproliferative neoplasms.

Bellanné-Chantelot C et al.

Blood Reviews, 2020

A Gain-of-Function Mutation in EPO in Familial Erythrocytosis.

Zmajkovic J et al.

The New England Journal of Medicine, 2018

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."