Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.P1395L
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ABCA4

NM_000350.3:p.P1395L

Associated Papers

Exploring the Role of ABCA4's ECD2 Domain in Inherited Retinal Degeneration: Computational and Functional Perspectives.

Jones JS et al.

Advances in Experimental Medicine and Biology, 2025

Mutation spectrum and founder chromosomes for the ABCA4 gene in South African patients with Stargardt disease.

September AV et al.

Investigative Ophthalmology & Visual Science, 2004

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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."