Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.R2760C
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EYS

NM_001142800.2:p.R2760C

Associated Papers

Panel-based genetic testing for inherited retinal disease screening 176 genes.

Sheck LHN et al.

Molecular Genetics & Genomic Medicine, 2021

33749171 (PubMed )
Supplement: MGG3-9-e1663-s001.xlsx › new

Sector Retinitis Pigmentosa: Extending the Molecular Genetics Basis and Elucidating the Natural History.

Georgiou M et al.

American Journal of Ophthalmology, 2021

Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency.

Yang L et al.

Scientific Reports, 2020

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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."