Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.E375G
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EGLN1

NM_022051.3:p.E375G

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

Utility of next-generation sequencing in identifying congenital erythrocytosis in patients with idiopathic erythrocytosis.

Anžej Doma S et al.

Frontiers in Medicine, 2024

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