Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.L279fs
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EGLN1

NM_022051.3:p.L279fs

Associated Papers

Germline Variants in Idiopathic Erythrocytosis Identified by Multigene Panel Sequencing.

Park MS et al.

International Journal of Laboratory Hematology, 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

37317877 (PubMed )
Supplement: 2023_282913_DELAMARE_SUPPL.pdf

Erythrocytosis: genes and pathways involved in disease development.

Gašperšič J et al.

Blood Transfusion = Trasfusione Del Sangue, 2021

Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.

Camps C et al.

Haematologica, 2016

Erythrocytosis due to PHD2 Mutations: A Review of Clinical Presentation, Diagnosis, and Genetics.

Wilson R et al.

Case Reports in Hematology, 2016

Hereditary gene mutations in Korean patients with isolated erythrocytosis.

Jang JH et al.

Annals of Hematology, 2014

The role of PHD2 mutations in the pathogenesis of erythrocytosis.

Gardie B et al.

Hypoxia (auckland, N.z.), 2014

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