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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CNGA3

Variant:p.G543_R545del0

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CNGA3

NM_001079878.2:p.G543_R545del0

hg38:chr2:98396850 GGGGAACCGC>G

Associated Papers

Genotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing.

Sun W et al.

Molecular Vision, 2020

32913385 (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."