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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCA4

Variant:p.V256_L257Splc

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ABCA4

NM_000350.3:p.V256_L257Splc

hg38:chr1:94089550 G>A

Associated Papers

Cis-acting modifiers in the ABCA4 locus contribute to the penetrance of the major disease-causing variant in Stargardt disease.

Lee W et al.

Human Molecular Genetics, 2021

33909047 (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."