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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CNGB1

Variant:p.G848_L849insFs

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CNGB1

NM_001297.5:p.G848_L849insFs

hg38:chr16:57904824 C>CG

Associated Papers

Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach.

Petersen-Jones SM et al.

The Journal of Clinical Investigation, 2018

29202463 (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."