Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.S1369fs
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EYS

NM_001142800.2:p.S1369fs

Associated Papers

Long-Read Whole-Genome Sequencing as a Tool for Variant Detection in Inherited Retinal Dystrophies.

Rodilla C et al.

International Journal of Molecular Sciences, 2025

40332496 (PubMed )
Supplement: ijms-26-03825-s001.zip › ijms-3500701-supplementary › RodillaC_LR-WGS_reviewed_Supplementary.xlsx › Table_S2

Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.

Marta A et al.

Npj Genomic Medicine, 2025

39939324 (PubMed )
Supplement: 41525_2025_475_MOESM1_ESM.xlsx › Families
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