Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.F366L
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EGLN1

NM_022051.3:p.F366L

Associated Papers

Erythrocytosis-inducing PHD2 mutations implicate biological role for N-terminal prolyl-hydroxylation in HIF1α oxygen-dependent degradation domain.

Taber CC et al.

Elife, 2025

Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis.

Delamare M et al.

Haematologica, 2023

Erythrocytosis: genes and pathways involved in disease development.

Gašperšič J et al.

Blood Transfusion = Trasfusione Del Sangue, 2021

Congenital erythrocytosis - discover of a new mutation in the EGLN1 gene.

Barradas J et al.

Clinical Case Reports, 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."