Varaico: Literature-Extracted Genetic Variants

Gene:NR2E3
Variant:p.A102D
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NR2E3

NM_014249.4:p.A102D

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

Enhanced S-Cone Syndrome: Spectrum of Clinical, Imaging, Electrophysiologic, and Genetic Findings in a Retrospective Case Series of 56 Patients.

de Carvalho ER et al.

Ophthalmology. Retina, 2021

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM23_ESM.xlsx › Supplementary_Data_20

A Novel FLVCR1 Variant Implicated in Retinitis Pigmentosa.

Dockery A et al.

Advances in Experimental Medicine and Biology, 2019

Macular cystoid spaces in patients with retinal dystrophy.

Lingao MD et al.

Ophthalmic Genetics, 2016

Two-color pupillometry in enhanced S-cone syndrome caused by NR2E3 mutations.

Collison FT et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2016

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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."