Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.E1087Q
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ABCA4

NM_000350.3:p.E1087Q

Associated Papers

Structural and functional characterization of the nucleotide-binding domains of ABCA4 and their role in Stargardt disease.

Scortecci JF et al.

The Journal of Biological Chemistry, 2024

Structural basis of substrate recognition and translocation by human ABCA4.

Xie T et al.

Nature Communications, 2021

Molecular structures of the eukaryotic retinal importer ABCA4.

Liu F et al.

Elife, 2021

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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."