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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EYS

Variant:p.Y2935insFs

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EYS

NM_001142800.2:p.Y2935insFs

hg38:chr6:63721226 G>GT

Associated Papers

Genotypic spectrum and phenotype correlations of EYS-associated disease in a Chinese cohort.

Gao FJ et al.

Eye (london, England), 2022

34689181 (PubMed )

Supplement: 41433_2021_1794_MOESM5_ESM.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."