Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.M202I
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EGLN1

NM_022051.3:p.M202I

Associated Papers

In silico Analysis of CHD4 Mutations Reveals Domain-Specific Impacts on Cardiovascular Disorders Among Patients With Rare Diseases.

Novillo A et al.

Human Mutation, 2026

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

Minervini G et al.

Biochimie, 2015

The role of PHD2 mutations in the pathogenesis of erythrocytosis.

Gardie B et al.

Hypoxia (auckland, N.z.), 2014

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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."