Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.R371C
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EGLN1

NM_022051.3:p.R371C

Associated Papers

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 associated with EPAS1(HIF2A), EGLN1(PHD2), VHL, EPOR or BPGM mutations: The Mayo Clinic experience.

Gangat N et al.

Haematologica, 2022

Erythrocytosis: genes and pathways involved in disease development.

Gašperšič J et al.

Blood Transfusion = Trasfusione Del Sangue, 2021

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

Wilson R et al.

Case Reports in Hematology, 2016

The role of PHD2 mutations in the pathogenesis of erythrocytosis.

Gardie B et al.

Hypoxia (auckland, N.z.), 2014

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