Varaico: Literature-Extracted Genetic Variants

Gene:GUCY2D
Variant:p.N129K
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GUCY2D

NM_000180.4:p.N129K

Associated Papers

A novel GUCY2D mutation, V933A, causes central areolar choroidal dystrophy.

Hughes AE et al.

Investigative Ophthalmology & Visual Science, 2012

Novel functions of photoreceptor guanylate cyclases revealed by targeted deletion.

Karan S et al.

Molecular and Cellular Biochemistry, 2010

Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.

Hanein S et al.

Human Mutation, 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."