Varaico: Literature-Extracted Genetic Variants

Gene:NR2E3
Variant:p.G40Splc
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NR2E3

NM_014249.4:p.G40Splc

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 › __

ENHANCED S-CONE SYNDROME: VISUAL FUNCTION, CROSS-SECTIONAL IMAGING, AND CELLULAR STRUCTURE WITH ADAPTIVE OPTICS OPHTHALMOSCOPY.

Ammar MJ et al.

Retinal Cases & Brief Reports, 2021

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