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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDE6B

Variant:p.R560H

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PDE6B

NM_000283.4:p.R560H

hg38:chr4:662198 G>A

Associated Papers

Genetics, Clinical Characteristics, and Natural History of PDE6B-Associated Retinal Dystrophy.

Hashem SA et al.

American Journal of Ophthalmology, 2024

38364953 (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."