Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.I2231I
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ABCA4

NM_000350.3:p.I2231I

Associated Papers

The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.

Maugeri A et al.

American Journal of Human Genetics, 1999

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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."