Varaico: Literature-Extracted Genetic Variants

Gene:EPO
Variant:p.A46T
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EPO

NM_000799.4:p.A46T

Associated Papers

Autosomal Dominant Erythrocytosis Caused by Non-Renal Erythropoietin (EPO) Due to EPO c.-136 G>A Germline Mutation.

Lanikova L et al.

American Journal of Hematology, 2026

Identification of Hepatic-like EPO as a Cause of Polycythemia.

Martin L et al.

The New England Journal of Medicine, 2025

Congenital erythrocytosis.

Mallik N et al.

European Journal of Haematology, 2021

Update on mutations in the HIF: EPO pathway and their role in erythrocytosis.

Lappin TR et al.

Blood Reviews, 2019

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

Vočanec D et al.

International Journal of Laboratory Hematology, 2019

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.

Taylor JC et al.

Nature Genetics, 2015

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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."