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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDE6A

Variant:p.F450S

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PDE6A

NM_000440.3:p.F450S

hg38:chr5:149898421 A>G

Associated Papers

Novel variants in PDE6A and PDE6B genes and its phenotypes in patients with retinitis pigmentosa in Chinese families.

Li Y et al.

Bmc Ophthalmology, 2022

35033039 (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."