Varaico: Literature-Extracted Genetic Variants

Gene:EPOR
Variant:p.A421fs
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EPOR

NM_000121.4:p.A421fs

Associated Papers

Elevated erythroferrone distinguishes erythrocytosis with inherited defects in oxygen-sensing pathway from primary familial and congenital polycythaemia.

Sochorcova L et al.

British Journal of Haematology, 2023

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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."