Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.V2050fs
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ABCA4

NM_000350.3:p.V2050fs

Associated Papers

Phenotype-Based Genetic Analysis Reveals Missing Heritability of ABCA4-Related Retinopathy: Deep Intronic Variants and Copy Number Variations.

Tian L et al.

Investigative Ophthalmology & Visual Science, 2022

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."