Varaico: Literature-Extracted Genetic Variants

Gene:RBP3
Variant:p.Y510*
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RBP3

NM_002900.3:p.Y510*

Associated Papers

RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping.

Georgiou M et al.

American Journal of Ophthalmology, 2024

De-novo "germline second hit" loss-of-heterozygosity RBP3 deletion mutation causing recessive high myopia.

Gombosh M et al.

Clinical Genetics, 2023

Whole-exome sequencing analysis identifies novel variants associated with Kawasaki disease susceptibility.

Zhang X et al.

Pediatric Rheumatology Online Journal, 2023

Single particle cryo-EM of the complex between interphotoreceptor retinoid-binding protein and a monoclonal antibody.

Sears AE et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020

Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy.

Arno G et al.

Investigative Ophthalmology & Visual Science, 2015

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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."