Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.Q1513_R1514Splc
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ABCA4

NM_000350.3:p.Q1513_R1514Splc

Associated Papers

High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies.

Song F et al.

Genes, 2021

Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.

Schulz HL et al.

Investigative Ophthalmology & Visual Science, 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."