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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCA4

Variant:p.P2180L

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ABCA4

NM_000350.3:p.P2180L

hg38:chr1:93998051 G>A

Associated Papers

Assessment of ABCA4 Genetic Variants: Current Landscape and Future Prospects.

Cevik S et al.

Advances in Experimental Medicine and Biology, 2025

39930174 (PubMed )

Functional Analysis of Retinal Flecks in Stargardt Disease.

Verdina T et al.

Journal of Clinical & Experimental Ophthalmology, 2012

24409374 (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."