Varaico: Literature-Extracted Genetic Variants

Gene:NR2E3
Variant:p.T161fs
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NR2E3

NM_014249.4:p.T161fs

Associated Papers

Cystoid Macular Lesions in Inherited Retinal Diseases: Prevalence, Characteristics, and Genetic Associations in a Hungarian Cohort.

Asboth B et al.

Genes, 2025

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

Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.

Maddirevula S et al.

Genome Biology, 2020

32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM4_ESM.xlsx › Table_S3

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Jespersgaard C et al.

Scientific Reports, 2019

30718709 (PubMed )
Supplement: 41598_2018_38007_MOESM2_ESM.xlsx › Ark1
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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."