Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.R2064Splc
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EYS

NM_001142800.2:p.R2064Splc

Associated Papers

A novel EYS c.6192-1G>A variant presents ideal base editing therapeutic opportunities.

Kaukonen M et al.

Ophthalmic Genetics, 2026

Panel-Based Genetic Testing in a Consecutive Series of Individuals with Inherited Retinal Diseases in Australia: Identifying Predictors of a Diagnosis.

Britten-Jones AC et al.

Genes, 2025

40869936 (PubMed )
Supplement: genes-16-00888-s001.zip › genes-3753886-Supplemental_materials.pdf
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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."