Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.P3121_K3122delFs
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EYS

NM_001142800.2:p.P3121_K3122delFs

Associated Papers

Systematic assessment of the contribution of structural variants to inherited retinal diseases.

Wen S et al.

Human Molecular Genetics, 2023

Systematic assessment of the contribution of structural variants to inherited retinal diseases.

Wen S et al.

Biorxiv : the Preprint Server for Biology, 2023

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Panneman DM et al.

Frontiers in Cell and Developmental Biology, 2023

36819107 (PubMed )
Supplement: Table9.xlsx › Blad1
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