Varaico: Literature-Extracted Genetic Variants

Gene:CNGB3
Variant:p.T383I
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CNGB3

NM_019098.5:p.T383I

Associated Papers

Frequency-dependent retinal responsiveness to sinusoidal electrical stimulation in achromatopsia.

Jung R et al.

Experimental Eye Research, 2023

Intraobserver Repeatability and Interobserver Reproducibility of Foveal Cone Density Measurements in CNGA3- and CNGB3-Associated Achromatopsia.

Georgiou M et al.

Translational Vision Science & Technology, 2020

32832242 (PubMed )
Supplement: tvst-9-7-37_s001.pdf

Characterization of Retinal Structure in ATF6-Associated Achromatopsia.

Mastey RR et al.

Investigative Ophthalmology & Visual Science, 2019

The cone dysfunction syndromes.

Aboshiha J et al.

The British Journal of Ophthalmology, 2016

Retinal structure and function in achromatopsia: implications for gene therapy.

Sundaram V et al.

Ophthalmology, 2014

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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."