Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.Y665delFs
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ABCA4

NM_000350.3:p.Y665delFs

Associated Papers

Ambispective study on the phenotypic progression of patients with Stargardt disease associated with ABCA4 gene mutations.

Martel Ramirez VA et al.

Archivos De La Sociedad Espanola De Oftalmologia, 2025

Genotypic spectrum of ABCA4-associated retinal degenerations in 211 unrelated Mexican patients: identification of 22 novel disease-causing variants.

Chacon-Camacho OF et al.

Molecular Genetics and Genomics : Mgg, 2024

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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."