Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.P120L
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EGLN1

NM_022051.3:p.P120L

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

41114716 (PubMed )
Supplement: elife-107121-supp1.xlsx › Fig_1

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

Delamare M et al.

Haematologica, 2023

Correlation of mutational landscape and survival outcome of peripheral T-cell lymphomas.

Ye Y et al.

Experimental Hematology & Oncology, 2021

33546774 (PubMed )
Supplement: 40164_2021_200_MOESM2_ESM.xlsx › Table_S2

Genotype-Phenotype Correlation of Hereditary Erythrocytosis Mutations, a single center experience.

Oliveira JL et al.

American Journal of Hematology, 2018

Insights into the proline hydroxylase (PHD) family, molecular evolution and its impact on human health.

Minervini G et al.

Biochimie, 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."