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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCA4

Variant:p.S1096delFs

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ABCA4

NM_000350.3:p.S1096delFs

hg38:chr1:94042801 CGA>C

Associated Papers

Identification and functional characterization of ABCA4 gene variants in three patients with Stargardt disease or retinitis pigmentosa.

Luo Q et al.

Frontiers in Genetics, 2025

40606666 (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."