Varaico: Literature-Extracted Genetic Variants

Gene:CNGB3
Variant:p.W482insFs
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CNGB3

NM_019098.5:p.W482insFs

Associated Papers

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

Adaptive Optics Retinal Imaging in CNGA3-Associated Achromatopsia: Retinal Characterization, Interocular Symmetry, and Intrafamilial Variability.

Georgiou M et al.

Investigative Ophthalmology & Visual Science, 2019

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