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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NR2E3

Variant:p.R76delFs

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NR2E3

NM_014249.4:p.R76delFs

hg38:chr15:71811590 CG>C

Associated Papers

Phenotypic characterisation of enhanced S Cone syndrome-a multicenter case series analysis.

Parameswarappa DC et al.

Eye (london, England), 2025

41125766 (PubMed )

Enhanced S-cone syndrome: Clinical spectrum in Indian population.

Naik A et al.

Indian Journal of Ophthalmology, 2019

30900587 (PubMed )

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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."