Varaico: Literature-Extracted Genetic Variants

Gene:GUCY2D
Variant:p.Q156*
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GUCY2D

NM_000180.4:p.Q156*

Associated Papers

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

Sharon D et al.

Progress in Retinal and Eye Research, 2018

Outcome measure for the treatment of cone photoreceptor diseases: orientation to a scene with cone-only contrast.

Roman AJ et al.

Bmc Ophthalmology, 2015

Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.

Stone EM

American Journal of Ophthalmology, 2007

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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."