Varaico: Literature-Extracted Genetic Variants

Gene:NR2E3
Variant:p.V49M
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NR2E3

NM_014249.4:p.V49M

Associated Papers

Clinical and Genetic Features of NR2E3-Associated Retinopathy: A Report of Eight Families with a Longitudinal Study and Literature Review.

Xiao S et al.

Genes, 2023

37628579 (PubMed )
Supplement: genes-14-01525-s001.zip › Supplementary_table_S2-R1.xlsx › __

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

Toms M et al.

Genes, 2023

NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP).

Schorderet DF et al.

Human Mutation, 2009

A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3.

Kanda A et al.

Molecular Vision, 2009

Phenotypic variation in enhanced S-cone syndrome.

Audo I et al.

Investigative Ophthalmology & Visual Science, 2008

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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."