Varaico: Literature-Extracted Genetic Variants

Gene:CNGB3
Variant:p.K477Fs
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CNGB3

NM_019098.5:p.K477Fs

Associated Papers

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

Mayer AK et al.

Human Mutation, 2017

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.

Weisschuh N et al.

Plos One, 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."