Varaico: Literature-Extracted Genetic Variants

Gene:NR2E3
Variant:p.S44*
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NR2E3

NM_014249.4:p.S44*

Associated Papers

Bilateral helicoid peri-papillary sub-retinal fibrosis due to a biallelic NR2E3 mutation: Describing variable expressivity of a mutation.

Hassanpoor N et al.

European Journal of Ophthalmology, 2024

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_S4-R1.xlsx › Sheet1

The genetic landscape of inherited retinal dystrophies in Arabs.

Jaffal L et al.

Bmc Medical Genomics, 2023

37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1

Adult-onset bestrophinopathy mistaken as central serous chorioretinopathy.

Khan AO et al.

Ophthalmic Genetics, 2022

Incidence and Natural History of Retinochoroidal Neovascularization in Enhanced S-Cone Syndrome.

Nowilaty SR et al.

American Journal of Ophthalmology, 2021

Helicoid subretinal fibrosis associated with a novel recessive NR2E3 mutation p.S44X.

Khan AO et al.

Archives of Ophthalmology (chicago, Ill. : 1960), 2010

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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."