Varaico: Literature-Extracted Genetic Variants

Gene:CNGA3
Variant:p.N296_N299Fs
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CNGA3

NM_001298.3:p.N296_N299Fs

Associated Papers

Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America.

Doucette L et al.

Ophthalmic Genetics, 2013

Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy.

Thiadens AA et al.

Ophthalmology, 2010

Oligocone trichromacy: clinical and molecular genetic investigations.

Andersen MK et al.

Investigative Ophthalmology & Visual Science, 2010

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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."