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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CNGB1

Variant:p.Q646*

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CNGB1

NM_001297.5:p.Q646*

hg38:chr16:57919120 G>A

Associated Papers

The Natural History of CNGB1-Related Retinopathy: A Longitudinal Phenotypic Analysis.

Jackson DJ et al.

International Journal of Molecular Sciences, 2022

35743231 (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."