Varaico: Literature-Extracted Genetic Variants

Gene:NR2E3
Variant:p.R73S
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NR2E3

NM_014249.4:p.R73S

Associated Papers

Exonic splice variant discovery using in vitro models of inherited retinal disease.

Mullin NK et al.

Hgg Advances, 2025

NR2E3 loss disrupts photoreceptor cell maturation and fate in human organoid models of retinal development.

Mullin NK et al.

The Journal of Clinical Investigation, 2024

Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3): Role in Retinal Development and Disease.

Toms M et al.

Genes, 2023

Application of CRISPR Tools for Variant Interpretation and Disease Modeling in Inherited Retinal Dystrophies.

Fuster-García C et al.

Genes, 2020

Correction of NR2E3 Associated Enhanced S-cone Syndrome Patient-specific iPSCs using CRISPR-Cas9.

Bohrer LR et al.

Genes, 2019

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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."