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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CNGA3

Variant:p.S542N

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CNGA3

NM_001298.3:p.S542N

hg38:chr2:98396795 G>A

Associated Papers

Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment.

Tanaka N et al.

Plos One, 2015

26407004 (PubMed )

Supplement: pone.0138943.s008.docx

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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."