Varaico: Literature-Extracted Genetic Variants

Gene:CYP2U1
Variant:p.Q315*
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CYP2U1

NM_183075.3:p.Q315*

Associated Papers

Macular Dystrophy with Bilateral Macular Telangiectasia Related to the CYP2U1 Pathogenic Variant Assessed with Multimodal Imaging Including OCT-Angiography.

El Matri K et al.

Genes, 2021

Characterization of the Retinal Phenotype Using Multimodal Imaging in Novel Compound Heterozygote Variants of CYP2U1.

Sallo FB et al.

Ophthalmology Science, 0

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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."