Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.R2064Splc
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EYS

NM_001142800.2:p.R2064Splc

Associated Papers

Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.

Jain R et al.

Genetics in Medicine Open, 2025

40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3

Next-generation sequencing--based genetic testing and phenotype correlation in retinitis pigmentosa patients from India.

Sen P et al.

Indian Journal of Ophthalmology, 2023

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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."