Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.D2181D
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ABCA4

NM_000350.3:p.D2181D

Associated Papers

Retinal phenotypic characterization of patients with ABCA4 retinopathydue to the homozygous p.Ala1773Val mutation.

López-Rubio S et al.

Molecular Vision, 2018

ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation.

Chacón-Camacho OF et al.

Experimental Eye Research, 2013

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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."