Varaico: Literature-Extracted Genetic Variants

Gene:GUCY2D
Variant:p.L38F
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GUCY2D

NM_000180.4:p.L38F

Associated Papers

Impaired association of retinal degeneration-3 with guanylate cyclase-1 and guanylate cyclase-activating protein-1 leads to leber congenital amaurosis-1.

Zulliger R et al.

The Journal of Biological Chemistry, 2015

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

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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."