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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CNGA3

Variant:p.R274fs

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CNGA3

NM_001298.3:p.R274fs

hg38:chr2:98395990 AGG>N

Associated Papers

Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy.

Burkard M et al.

The Journal of Clinical Investigation, 2018

30418171 (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."