Varaico: Literature-Extracted Genetic Variants

Gene:CNGB3
Variant:p.S436R
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CNGB3

NM_019098.5:p.S436R

Associated Papers

Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.

Bryant L et al.

Clinical Ophthalmology (auckland, N.z.), 2018

Residual Foveal Cone Structure in CNGB3-Associated Achromatopsia.

Langlo CS et al.

Investigative Ophthalmology & Visual Science, 2016

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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."