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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCA4

Variant:p.Q1513K

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ABCA4

NM_000350.3:p.Q1513K

hg38:chr1:94029447 G>T

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

39930175 (PubMed )

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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."