Varaico: Literature-Extracted Genetic Variants

Gene:RD3
Variant:p.Q107*
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RD3

NM_001164688.2:p.Q107*

Associated Papers

Insights into the role of RD3 in guanylate cyclase trafficking, photoreceptor degeneration, and Leber congenital amaurosis.

Molday LL et al.

Frontiers in Molecular Neuroscience, 2014

RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells.

Azadi S et al.

Proceedings of the National Academy of Sciences of the United States of America, 2010

Canine RD3 mutation establishes rod-cone dysplasia type 2 (rcd2) as ortholog of human and murine rd3.

Kukekova AV et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2009

Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.

Friedman JS et al.

American Journal of Human Genetics, 2006

Hypomorphic variants in inherited retinal and ocular diseases: A review of the literature with clinical cases.

Thuma TBT et al.

Survey of Ophthalmology, 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."