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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CNGA3

Variant:p.S570R

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CNGA3

NM_001298.3:p.S570R

hg38:chr2:98396878 A>C

Associated Papers

Expanding the genetic spectrum of achromatopsia: novel CNGA3 and CNGB3 variants.

Manav Yigit Z et al.

International Ophthalmology, 2025

40699246 (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."