Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.R396T
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EGLN1

NM_022051.3:p.R396T

Associated Papers

Born to sense: biophysical analyses of the oxygen sensing prolyl hydroxylase from the simplest animal Trichoplax adhaerens.

Lippl K et al.

Hypoxia (auckland, N.z.), 2018

Structural basis for oxygen degradation domain selectivity of the HIF prolyl hydroxylases.

Chowdhury R et al.

Nature Communications, 2016

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

Minervini G et al.

Biochimie, 2015

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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."