Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.E1670K
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ABCA4

NM_000350.3:p.E1670K

Associated Papers

Possible protective role of the ABCA4 gene c.1268A>G missense variant in Stargardt disease and syndromic retinitis pigmentosa in a Sicilian family: Preliminary data.

D'Angelo R et al.

International Journal of Molecular Medicine, 2017

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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."