Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.G2D
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ABCA4

NM_000350.3:p.G2D

Associated Papers

Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.

Wang X et al.

Bmc Ophthalmology, 2017

Analysis of autofluorescent retinal images and measurement of atrophic lesion growth in Stargardt disease.

Chen B et al.

Experimental Eye Research, 2010

Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations.

Stenirri S et al.

Clinical Chemistry, 2004

A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.

Rivera A et al.

American Journal of Human Genetics, 2000

Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.

Lewis RA 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."