Varaico: Literature-Extracted Genetic Variants

Gene:GUCY2D
Variant:p.E556_G557Splc
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GUCY2D

NM_000180.4:p.E556_G557Splc

Associated Papers

Preliminary characterization of a novel form of progressive retinal atrophy in the German Spitz dog associated with a frameshift mutation in GUCY2D.

Bortolini M et al.

Veterinary Ophthalmology, 2023

Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D.

Sharon D et al.

Progress in Retinal and Eye Research, 2018

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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."