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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCA4

Variant:p.G1110Splc

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ABCA4

NM_000350.3:p.G1110Splc

hg38:chr1:94042760 C>A

Associated Papers

Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function.

Kaltak M et al.

Journal of Translational Medicine, 2023

37587475 (PubMed )

Supplement: 12967_2023_4406_MOESM3_ESM.xlsx › Table_S4

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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."