Varaico: Literature-Extracted Genetic Variants

Gene:CNGB3
Variant:p.Q476*
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CNGB3

NM_019098.5:p.Q476*

Associated Papers

CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.

Mayer AK et al.

Human Mutation, 2017

Early signs of longitudinal progressive cone photoreceptor degeneration in achromatopsia.

Thomas MG et al.

The British Journal of Ophthalmology, 2012

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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."