Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.V2050delFs
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ABCA4

NM_000350.3:p.V2050delFs

Associated Papers

Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.

Hitti-Malin RJ et al.

Human Mutation, 2022

36259723 (PubMed )
Supplement: HUMU-43-2234-s007.xlsx › DIVs

Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.

Cremers FPM et al.

Progress in Retinal and Eye Research, 2020

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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."