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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCA4

Variant:p.S2224delFs

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ABCA4

NM_000350.3:p.S2224delFs

hg38:chr1:93997919 GA>G

Associated Papers

Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes.

Lee W et al.

Human Genetics, 2016

26527198 (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."