Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.Y665fs
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ABCA4

NM_000350.3:p.Y665fs

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

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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."