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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CNGA3

Variant:p.L541I

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CNGA3

NM_001298.3:p.L541I

hg38:chr2:98396791 C>A

Associated Papers

Optical Gap Biomarker in Cone-Dominant Retinal Dystrophy.

Oh JK et al.

American Journal of Ophthalmology, 2020

32445700 (PubMed )

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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."