Varaico: Literature-Extracted Genetic Variants

Gene:RD3
Variant:p.R68W
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RD3

NM_001164688.2:p.R68W

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

Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.

Perrault I et al.

Plos One, 2013

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

RD3: a challenge and a promise.

Azadi S

Jsm Biotechnology & Biomedical Engineering, 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."