Varaico: Literature-Extracted Genetic Variants

Gene:GUCY2D
Variant:p.I539V
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GUCY2D

NM_000180.4:p.I539V

Associated Papers

Photoreceptor Cilia and Retinal Ciliopathies.

Bujakowska KM et al.

Cold Spring Harbor Perspectives in Biology, 2017

A missense mutation in GUCY2D acts as a genetic modifier in RPE65-related Leber Congenital Amaurosis.

Silva E et al.

Ophthalmic Genetics, 2004

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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."