Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.A2410S
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EYS

NM_001142800.2:p.A2410S

Associated Papers

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

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_MOESM1_ESM.pdf

Longitudinal Assessment of Structural and Functional Changes in Rod-cone Dystrophy: A 10-year Follow-up Study.

Britten-Jones AC et al.

Ophthalmology Science, 0

39811267 (PubMed )
Supplement: mmc4.pdf
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