Varaico: Literature-Extracted Genetic Variants

Gene:PDE6C
Variant:p.R565Q
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PDE6C

NM_006204.4:p.R565Q

Associated Papers

A spontaneous nonhuman primate model of inherited retinal degeneration.

Yi W et al.

Jci Insight, 2025

Onset and Progression of Disease in Nonhuman Primates With PDE6C Cone Disorder.

Ardon M et al.

Investigative Ophthalmology & Visual Science, 2024

Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.

Georgiou M et al.

Progress in Retinal and Eye Research, 2024

Developing Non-Human Primate Models of Inherited Retinal Diseases.

Seah I et al.

Genes, 2022

Inherited retinal diseases: Therapeutics, clinical trials and end points-A review.

Georgiou M et al.

Clinical & Experimental Ophthalmology, 2021

Two novel PDE6C gene mutations in Chinese family with achromatopsia.

Yuan S et al.

Ophthalmic Genetics, 2020

Deep Phenotyping of PDE6C-Associated Achromatopsia.

Georgiou M et al.

Investigative Ophthalmology & Visual Science, 2019

A nonhuman primate model of inherited retinal disease.

Moshiri A et al.

The Journal of Clinical Investigation, 2019

Blinded by the light: a nonhuman primate model of achromatopsia.

Uyhazi KE et al.

The Journal of Clinical Investigation, 2019

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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."