Varaico: Literature-Extracted Genetic Variants

Gene:EPOR
Variant:p.Q82*
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EPOR

NM_000121.4:p.Q82*

Associated Papers

A protective erythropoietin evolutionary landscape, NLRP3 inflammasome regulation, and multisystem inflammatory syndrome in children.

Papadopoulos KI et al.

Human Cell, 2023

A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin.

Oskarsson GR et al.

Communications Biology, 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."