Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.R91W
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EGLN1

NM_022051.3:p.R91W

Associated Papers

Hif1a and Hif2a can be safely inactivated in cone photoreceptors.

Samardzija M et al.

Scientific Reports, 2019

Targeting Hif1a rescues cone degeneration and prevents subretinal neovascularization in a model of chronic hypoxia.

Barben M et al.

Molecular Neurodegeneration, 2018

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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."