Varaico: Literature-Extracted Genetic Variants

Gene:NR2E3
Variant:p.R311W
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NR2E3

NM_014249.4:p.R311W

Associated Papers

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

Toms M et al.

Genes, 2023

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Panneman DM et al.

Frontiers in Cell and Developmental Biology, 2023

36819107 (PubMed )
Supplement: Table4.xlsx › Results

Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies.

Patel N et al.

Clinical Genetics, 2018

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