Varaico: Literature-Extracted Genetic Variants

Gene:NR2E1
Variant:p.R309G
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NR2E1

NM_003269.5:p.R309G

Associated Papers

Absence of NR2E1 mutations in patients with aniridia.

Corso-Díaz X et al.

Molecular Vision, 2012

Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.

Haider NB et al.

Nature Genetics, 2000

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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."