Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.V1686del1
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ABCA4

NM_000350.3:p.V1686del1

Associated Papers

Characterization of the Subclinical Perilesional Zone in the Macula of Early-Stage ABCA4 Disease.

Zee A et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Variants in the ABCA4 gene in a Brazilian population with Stargardt disease.

Salles MV et al.

Molecular Vision, 2018

Novel Complex ABCA4 Alleles in Brazilian Patients With Stargardt Disease: Genotype-Phenotype Correlation.

Salles MV et al.

Investigative Ophthalmology & Visual Science, 2017

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."