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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCA4

Variant:p.L2230delFs

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ABCA4

NM_000350.3:p.L2230delFs

hg38:chr1:93997900 GA>G

Associated Papers

Clinical and Genetic Characteristics of 18 Patients from Southeast China with ABCA4-Associated Stargardt Disease.

Liu X et al.

International Journal of Molecular Sciences, 2025

40244202 (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."