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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CNGA3

Variant:p.G557E

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CNGA3

NM_001298.3:p.G557E

hg38:chr2:98396840 G>A

Associated Papers

Two Novel Disease-Causing Variants in the PDE6C Gene Underlying Achromatopsia.

Madeira C et al.

Case Reports in Ophthalmology, 0

34720973 (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."