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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CNGB1

Variant:p.S647delFs

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CNGB1

NM_001297.5:p.S647delFs

hg38:chr16:57919116 CT>C

Associated Papers

Advancing Gene Therapy for PDE6A Retinitis Pigmentosa.

Petersen-Jones SM et al.

Advances in Experimental Medicine and Biology, 2019

31884596 (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."