Varaico: Literature-Extracted Genetic Variants

Gene:NR2E3
Variant:p.A63D
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NR2E3

NM_014249.4:p.A63D

Associated Papers

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

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