Varaico: Literature-Extracted Genetic Variants

Gene:GUCY2D
Variant:p.G57V
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GUCY2D

NM_000180.4:p.G57V

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

Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.

Preising MN et al.

Investigative Ophthalmology & Visual Science, 2012

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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."