Varaico: Literature-Extracted Genetic Variants

Gene:EGLN2
Variant:p.Y374C
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EGLN2

NM_080732.4:p.Y374C

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

Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia.

Ladroue C et al.

Haematologica, 2012

HIF pathway mutations and erythrocytosis.

McMullin MF

Expert Review of Hematology, 2010

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